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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: ALMS1 ENSG00000116127

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Description

Alstrom syndrome 1 [Source:HGNC Symbol;Acc:428]

Gene Synonyms

ALSS, KIAA0328

Location

Chromosome 2: 73,612,886-73,837,920 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 8 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000264448.6	ALMS1-001	12922	4167aa	ENSP00000264448.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42697	A6NMY3 Q8TCU4	NM_015120.4	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409009.1	ALMS1-002	12592	4125aa	ENSP00000386627.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8ZZJ3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000377715.1	ALMS1-201	7797	2561aa	ENSP00000366944.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A6NMY3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000423048.1	ALMS1-003	5194	1023aa	ENSP00000399833.1	Nonsense mediated decay		H7C1D9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000464408.2	ALMS1-007	640	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000490821.1	ALMS1-006	578	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000476650.1	ALMS1-005	239	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000484298.1	ALMS1-004	6720	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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