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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	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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