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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: BARD1 ENSG00000138376

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Description

BRCA1 associated RING domain 1 [Source:HGNC Symbol;Acc:952]

Location

Chromosome 2: 215,590,370-215,674,428 reverse strand.

GRCh37:CM000664.1

About this gene

This gene has 9 transcripts (splice variants), 7 paralogues and is associated with 91 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000260947.4	BARD1-001	5499	777aa	ENSP00000260947.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2397	Q99728	NM_001282548.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000449967.2	BARD1-201	2257	567aa	ENSP00000406752.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EUI3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000432456.1	BARD1-002	921	148aa	ENSP00000405020.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J6M1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000421162.1	BARD1-005	766	216aa	ENSP00000392245.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9IYG1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000455743.1	BARD1-003	2261	76aa	ENSP00000412186.1	Nonsense mediated decay		F8WCG2	-	-
ENST00000471787.1	BARD1-007	872	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000471590.1	BARD1-004	617	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479904.1	BARD1-008	573	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000465841.1	BARD1-006	175	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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