Canonical Allele Identifier: CA2699534513

Gene: ALMS1

Linked Data

• dbSNP Id: rs2103889627

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489770del , CM000664.2:g.73489770del	GRCh38
NC_000002.11:g.73716897del , CM000664.1:g.73716897del	GRCh37
NC_000002.10:g.73570405del	NCBI36
NG_011690.1:g.109018del , LRG_741:g.109018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7430del	ENSP00000507671.1:p.Phe2477SerfsTer9
ENST00000682801.1:c.7430del	ENSP00000507862.1:p.Phe2477SerfsTer9
ENST00000682859.1:c.7430del	ENSP00000508222.1:p.Phe2477SerfsTer9
ENST00000683791.1:c.822del
ENST00000684460.1:c.4882del
ENST00000684548.1:c.7430del	ENSP00000507421.1:p.Phe2477SerfsTer9
ENST00000684590.1:c.1877del	ENSP00000507376.1:p.Phe626SerfsTer9
ENST00000684656.1:c.4882del
ENST00000613296.6:c.7811del MANE Select	ENSP00000482968.1:p.Phe2604SerfsTer9
ENST00000651434.1:c.896-30005del
ENST00000423048.5:c.2642del	ENSP00000399833.1:p.Phe881SerfsTer9
ENST00000484298.5:c.7685del	ENSP00000478155.1:p.Phe2562SerfsTer9
ENST00000613296.4:c.7811del	ENSP00000482968.1:p.Phe2604SerfsTer9
ENST00000614410.4:c.7811del	ENSP00000479094.1:p.Phe2604SerfsTer9
ENST00000620466.4:n.1614del
NM_015120.4:c.7814del , LRG_741t1:c.7814del	NP_055935.4:p.Phe2605SerfsTer9
NM_001378454.1:c.7811del MANE Select	NP_001365383.1:p.Phe2604SerfsTer9