Canonical Allele Identifier: CA2649766208

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201076997-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077003del , CM000663.2:g.201077003del	GRCh38
NC_000001.10:g.201046131del , CM000663.1:g.201046131del	GRCh37
NC_000001.9:g.199312754del	NCBI36
NG_009816.1:g.40569del
NG_009816.2:g.40569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1749del MANE Select	ENSP00000355192.3:p.Arg584GlyfsTer28
ENST00000679417.1:c.*912del	ENSP00000506706.1:n.*912del
ENST00000680059.1:c.1749del	ENSP00000504944.1:p.Arg584GlyfsTer28
ENST00000681078.1:c.1749del	ENSP00000506645.1:p.Arg584GlyfsTer28
ENST00000681190.1:c.1749del	ENSP00000506428.1:p.Arg584GlyfsTer28
ENST00000681874.1:c.1749del	ENSP00000505162.1:p.Arg584GlyfsTer28
ENST00000362061.3:c.1749del	ENSP00000355192.3:p.Arg584GlyfsTer28
ENST00000367338.7:c.1749del	ENSP00000356307.3:p.Arg584GlyfsTer28
NM_000069.2:c.1749del	NP_000060.2:p.Arg584GlyfsTer28
XM_005245478.2:c.1749del	XP_005245535.1:p.Arg584GlyfsTer28
XM_005245478.3:c.1749del	XP_005245535.1:p.Arg584GlyfsTer28
NM_000069.3:c.1749del MANE Select	NP_000060.2:p.Arg584GlyfsTer28