Canonical Allele Identifier: CA1261033858

Gene: ALMS1

Linked Data

• dbSNP Id: rs1675681480

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601314_73601315insTATGCATATAATACA , CM000664.2:g.73601314_73601315insTATGCATATAATACA	GRCh38
NC_000002.11:g.73828441_73828442insTATGCATATAATACA , CM000664.1:g.73828441_73828442insTATGCATATAATACA	GRCh37
NC_000002.10:g.73681949_73681950insTATGCATATAATACA	NCBI36
NG_011690.1:g.220562_220563insTATGCATATAATACA , LRG_741:g.220562_220563insTATGCATATAATACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11611_11612insTATGCATATAATACA	ENSP00000507671.1:p.Arg3871IlefsTer4
ENST00000682801.1:c.11167-871_11167-870insTATGCATATAATACA	ENSP00000507862.1:n.11167-871_11167-870insTATGCATATAATACA
ENST00000682859.1:c.11611_11612insTATGCATATAATACA	ENSP00000508222.1:p.Arg3871IlefsTer4
ENST00000683791.1:c.4697_4698insTATGCATATAATACA
ENST00000684460.1:c.8892_8893insTATGCATATAATACA
ENST00000684548.1:c.11611_11612insTATGCATATAATACA	ENSP00000507421.1:p.Arg3871IlefsTer4
ENST00000684590.1:c.6058_6059insTATGCATATAATACA	ENSP00000507376.1:p.Arg2020IlefsTer4
ENST00000684656.1:c.9076_9077insTATGCATATAATACA
ENST00000613296.6:c.11992_11993insTATGCATATAATACA MANE Select	ENSP00000482968.1:p.Arg3998IlefsTer4
ENST00000651057.1:c.2146_2147insTATGCATATAATACA	ENSP00000498504.1:p.Arg716IlefsTer4
ENST00000651434.1:c.3348_3349insTATGCATATAATACA
ENST00000651750.1:c.1260+433_1260+434insTATGCATATAATACA
ENST00000652487.1:c.3163_3164insTATGCATATAATACA
ENST00000464408.3:n.167_168insTATGCATATAATACA
ENST00000484298.5:c.11866_11867insTATGCATATAATACA	ENSP00000478155.1:p.Arg3956IlefsTer4
ENST00000613296.4:c.11992_11993insTATGCATATAATACA	ENSP00000482968.1:p.Arg3998IlefsTer4
ENST00000620466.4:n.5795_5796insTATGCATATAATACA
NM_015120.4:c.11995_11996insTATGCATATAATACA , LRG_741t1:c.11995_11996insTATGCATATAATACA	NP_055935.4:p.Arg3999IlefsTer4
NM_001378454.1:c.11992_11993insTATGCATATAATACA MANE Select	NP_001365383.1:p.Arg3998IlefsTer4