Gene: BCL2L1 (ENSG00000171552) - Structural variants - Homo_sapiens

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000307677.4	BCL2L1-004	2610	233aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13189	Q07817 Q5QP56 Q5QP59 Q5TE64 Q9H1R6	NM_138578.1	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000420653.1	BCL2L1-201	2588	233aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13189	Q07817 Q5QP56 Q5QP59 Q5TE64 Q9H1R6	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000376062.2	BCL2L1-001	2578	233aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13189	Q07817 Q5QP56 Q5QP59 Q5TE64 Q9H1R6	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000376055.4	BCL2L1-002	2383	170aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13188	Q07817 Q5QP59 Q5TE63	NM_001191.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000422920.1	BCL2L1-008	1157	188aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5QP56 Q5QP59 Q9H1R6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000456404.1	BCL2L1-007	914	188aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5QP56 Q5QP59 Q9H1R6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000450273.1	BCL2L1-003	894	205aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5QP56 Q5QP59 Q5TE64 Q9H1R6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000420488.1	BCL2L1-006	820	188aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5QP56 Q5QP59 Q9H1R6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000439267.1	BCL2L1-005	781	181aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5QP56 Q5QP59	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000434194.1	BCL2L1-009	381	48aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5QP59	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Structural variants

Name	Chr:bp	Genomic size (bp)	Class	Source Study	Study description
nsv429514	20:61305-35511963	0-	CNV	DGVa:nstd11	Database of Genomic Variants Archive: Walter 2009 "Acquired copy number alterations in adult acute myeloid leukemia genomes." PMID:19651600
nsv429588	20:61305-62956153	0-	CNV	DGVa:nstd11	Database of Genomic Variants Archive: Walter 2009 "Acquired copy number alterations in adult acute myeloid leukemia genomes." PMID:19651600
nsv2778234	20:61569-62915555	6285398762,853,987	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3895314	20:61569-62915555	6285398762,853,987	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv3896520	20:63244-62912463	6284922062,849,220	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv3905072	20:63244-62948788	6288554562,885,545	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv3892750	20:63244-62961294	6289805162,898,051	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv918162	20:69623-62904501	6283487962,834,879	CNV	DGVa:nstd75	Database of Genomic Variants Archive: International Standards for Cytogenomic Arrays Consortium (prenatal dataset) PMID:21844811 PMID:20466091
nsv533138	20:80198-62908674	6282847762,828,477	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3920218	20:80198-62908674	6282847762,828,477	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
esv3804949	20:1226913-37954522	3672761036,727,610	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3759431	20:2170028-35183414	3301338733,013,387	tandem duplication	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3814606	20:3561760-51204614	4764285547,642,855	tandem duplication	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3762625	20:4795051-30430778	2563572825,635,728	tandem duplication	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3785980	20:5952574-50926601	4497402844,974,028	tandem duplication	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3757923	20:6325419-32572980	2624756226,247,562	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3790087	20:7936168-50920111	4298394442,983,944	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3789003	20:8357110-56389999	4803289048,032,890	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3804962	20:8726325-44589623	3586329935,863,299	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3808082	20:8726326-44589623	3586329835,863,298	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3793001	20:8877694-50943384	4206569142,065,691	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
nsv531707	20:9792081-37945599	2815351928,153,519	CNV	DGVa:nstd101	Database of Genomic Variants Archive: Kaminsky 2011 "An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities."
nsv3910142	20:9792081-37945599	2815351928,153,519	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
esv3759429	20:9853456-54491182	4463772744,637,727	CNV	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71
esv3794279	20:9923378-53390360	4346698343,466,983	tandem duplication	DGVa:estd192	Database of Genomic Variants Archive: Catalogue of Somatic Mutations in Cancer (COSMIC) version 71

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Copy number variant probes

Name	Chr:bp	Genomic size (bp)	Class	Source Study	Study description
CN_892154	20:30253737-30253761	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_892155	20:30255934-30255958	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894205	20:30262239-30262263	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894206	20:30262791-30262815	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894207	20:30265293-30265317	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894208	20:30267804-30267828	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
cnvi0044604	20:30268034-30268034	0-	CNV_PROBE	Illumina_Human1M-duo	Variants from the Illumina Human 1M-Duo v3 whole genome SNP genotyping chip designed for association studies
CN_894209	20:30269000-30269024	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894211	20:30270849-30270873	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894212	20:30272451-30272475	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894214	20:30277975-30277999	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894215	20:30279386-30279410	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894216	20:30280822-30280846	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894217	20:30283654-30283678	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894218	20:30285530-30285554	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894219	20:30287395-30287419	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894220	20:30287938-30287962	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894221	20:30290111-30290135	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894222	20:30294547-30294571	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894223	20:30295224-30295248	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894224	20:30295737-30295761	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
cnvi0044605	20:30299202-30299202	0-	CNV_PROBE	Illumina_Human1M-duo	Variants from the Illumina Human 1M-Duo v3 whole genome SNP genotyping chip designed for association studies
CN_894225	20:30303133-30303157	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894226	20:30304009-30304033	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_894227	20:30306779-30306803	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0

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Gene: BCL2L1 ENSG00000171552

Structural variants

Structural variants

Copy number variant probes