Canonical Allele Identifier: CA2573051459

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 1318890
• ClinVar RCV Id: RCV001755538
• dbSNP Id: rs2102140252

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075583_201075586delinsAATA , CM000663.2:g.201075583_201075586delinsAATA	GRCh38
NC_000001.10:g.201044711_201044714delinsAATA , CM000663.1:g.201044711_201044714delinsAATA	GRCh37
NC_000001.9:g.199311334_199311337delinsAATA	NCBI36
NG_009816.1:g.41981_41984delinsTATT
NG_009816.2:g.41981_41984delinsTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1857_1860delinsTATT MANE Select	ENSP00000355192.3:p.Met619_Met620delinsIleIle
ENST00000679417.1:c.*1020_*1023delinsTATT	ENSP00000506706.1:n.*1020_*1023delinsTATT
ENST00000680059.1:c.1857_1860delinsTATT	ENSP00000504944.1:p.Met619_Met620delinsIleIle
ENST00000681078.1:c.1857_1860delinsTATT	ENSP00000506645.1:p.Met619_Met620delinsIleIle
ENST00000681190.1:c.1857_1860delinsTATT	ENSP00000506428.1:p.Met619_Met620delinsIleIle
ENST00000681874.1:c.1857_1860delinsTATT	ENSP00000505162.1:p.Met619_Met620delinsIleIle
ENST00000362061.3:c.1857_1860delinsTATT	ENSP00000355192.3:p.Met619_Met620delinsIleIle
ENST00000367338.7:c.1857_1860delinsTATT	ENSP00000356307.3:p.Met619_Met620delinsIleIle
NM_000069.2:c.1857_1860delinsTATT	NP_000060.2:p.Met619_Met620delinsIleIle
XM_005245478.2:c.1857_1860delinsTATT	XP_005245535.1:p.Met619_Met620delinsIleIle
XM_005245478.3:c.1857_1860delinsTATT	XP_005245535.1:p.Met619_Met620delinsIleIle
NM_000069.3:c.1857_1860delinsTATT MANE Select	NP_000060.2:p.Met619_Met620delinsIleIle