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 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000264448.6 | ALMS1-001 | 12922 | 4167aa | ENSP00000264448.6 | Protein coding | CCDS42697 | A6NMY3 Q8TCU4 | NM_015120.4 | GENCODE basic, |
| ENST00000409009.1 | ALMS1-002 | 12592 | 4125aa | ENSP00000386627.1 | Protein coding | B8ZZJ3 | - | GENCODE basic, | |
| ENST00000377715.1 | ALMS1-201 | 7797 | 2561aa | ENSP00000366944.1 | Protein coding | A6NMY3 | - | GENCODE basic, | |
| ENST00000423048.1 | ALMS1-003 | 5194 | 1023aa | ENSP00000399833.1 | Nonsense mediated decay | H7C1D9 | - | CDS 5' incomplete, | |
| ENST00000464408.2 | ALMS1-007 | 640 | No protein | - | Processed transcript | - | - | - | |
| ENST00000490821.1 | ALMS1-006 | 578 | No protein | - | Processed transcript | - | - | - | |
| ENST00000476650.1 | ALMS1-005 | 239 | No protein | - | Processed transcript | - | - | - | |
| ENST00000484298.1 | ALMS1-004 | 6720 | No protein | - | Retained intron | - | - | - |
