Canonical Allele Identifier: CA2580068250

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1762741
• ClinVar RCV Id: RCV002430252

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490240_73490242delinsACT , CM000664.2:g.73490240_73490242delinsACT	GRCh38
NC_000002.11:g.73717367_73717369delinsACT , CM000664.1:g.73717367_73717369delinsACT	GRCh37
NC_000002.10:g.73570875_73570877delinsACT	NCBI36
NG_011690.1:g.109488_109490delinsACT , LRG_741:g.109488_109490delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7900_7902delinsACT	ENSP00000507671.1:p.Pro2634Thr
ENST00000682801.1:c.7900_7902delinsACT	ENSP00000507862.1:p.Pro2634Thr
ENST00000682859.1:c.7900_7902delinsACT	ENSP00000508222.1:p.Pro2634Thr
ENST00000683791.1:c.1292_1294delinsACT
ENST00000684460.1:c.5352_5354delinsACT
ENST00000684548.1:c.7900_7902delinsACT	ENSP00000507421.1:p.Pro2634Thr
ENST00000684590.1:c.2347_2349delinsACT	ENSP00000507376.1:p.Pro783Thr
ENST00000684656.1:c.5352_5354delinsACT
ENST00000613296.6:c.8281_8283delinsACT MANE Select	ENSP00000482968.1:p.Pro2761Thr
ENST00000651434.1:c.896-29535_896-29533delinsACT
ENST00000423048.5:c.3030+82_3030+84delinsACT	ENSP00000399833.1:n.3030+82_3030+84delinsACT
ENST00000484298.5:c.8155_8157delinsACT	ENSP00000478155.1:p.Pro2719Thr
ENST00000613296.4:c.8281_8283delinsACT	ENSP00000482968.1:p.Pro2761Thr
ENST00000614410.4:c.8281_8283delinsACT	ENSP00000479094.1:p.Pro2761Thr
ENST00000620466.4:n.2084_2086delinsACT
NM_015120.4:c.8284_8286delinsACT , LRG_741t1:c.8284_8286delinsACT	NP_055935.4:p.Pro2762Thr
NM_001378454.1:c.8281_8283delinsACT MANE Select	NP_001365383.1:p.Pro2761Thr