Canonical Allele Identifier: CA1219574422

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075510_201075520delinsAAAGGATGATG , CM000663.2:g.201075510_201075520delinsAAAGGATGATG	GRCh38
NC_000001.10:g.201044638_201044648delinsAAAGGATGATG , CM000663.1:g.201044638_201044648delinsAAAGGATGATG	GRCh37
NC_000001.9:g.199311261_199311271delinsAAAGGATGATG	NCBI36
NG_009816.1:g.42047_42057delinsCATCATCCTTT
NG_009816.2:g.42047_42057delinsCATCATCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1923_1933delinsCATCATCCTTT MANE Select	ENSP00000355192.3:p.Phe641=
ENST00000679417.1:c.*1086_*1096delinsCATCATCCTTT	ENSP00000506706.1:n.*1086_*1096delinsCATCATCCTTT
ENST00000680059.1:c.1923_1933delinsCATCATCCTTT	ENSP00000504944.1:p.Phe641=
ENST00000681078.1:c.1923_1933delinsCATCATCCTTT	ENSP00000506645.1:p.Phe641=
ENST00000681190.1:c.1923_1933delinsCATCATCCTTT	ENSP00000506428.1:p.Phe641=
ENST00000681874.1:c.1923_1933delinsCATCATCCTTT	ENSP00000505162.1:p.Phe641=
ENST00000362061.3:c.1923_1933delinsCATCATCCTTT	ENSP00000355192.3:p.Phe641=
ENST00000367338.7:c.1923_1933delinsCATCATCCTTT	ENSP00000356307.3:p.Phe641=
NM_000069.2:c.1923_1933delinsCATCATCCTTT	NP_000060.2:p.Phe641=
XM_005245478.2:c.1923_1933delinsCATCATCCTTT	XP_005245535.1:p.Phe641=
XM_005245478.3:c.1923_1933delinsCATCATCCTTT	XP_005245535.1:p.Phe641=
NM_000069.3:c.1923_1933delinsCATCATCCTTT MANE Select	NP_000060.2:p.Phe641=