Canonical Allele Identifier: CA2649766046

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075641-CGGGAACACAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075645_201075656del , CM000663.2:g.201075645_201075656del	GRCh38
NC_000001.10:g.201044773_201044784del , CM000663.1:g.201044773_201044784del	GRCh37
NC_000001.9:g.199311396_199311407del	NCBI36
NG_009816.1:g.41914_41925del
NG_009816.2:g.41914_41925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1828-38_1828-27del MANE Select	ENSP00000355192.3:n.1828-38_1828-27del
ENST00000679417.1:c.*991-38_*991-27del	ENSP00000506706.1:n.*991-38_*991-27del
ENST00000680059.1:c.1828-38_1828-27del	ENSP00000504944.1:n.1828-38_1828-27del
ENST00000681078.1:c.1828-38_1828-27del	ENSP00000506645.1:n.1828-38_1828-27del
ENST00000681190.1:c.1828-38_1828-27del	ENSP00000506428.1:n.1828-38_1828-27del
ENST00000681874.1:c.1828-38_1828-27del	ENSP00000505162.1:n.1828-38_1828-27del
ENST00000362061.3:c.1828-38_1828-27del	ENSP00000355192.3:n.1828-38_1828-27del
ENST00000367338.7:c.1828-38_1828-27del	ENSP00000356307.3:n.1828-38_1828-27del
NM_000069.2:c.1828-38_1828-27del	NP_000060.2:n.1828-38_1828-27del
XM_005245478.2:c.1828-38_1828-27del	XP_005245535.1:n.1828-38_1828-27del
XM_005245478.3:c.1828-38_1828-27del	XP_005245535.1:n.1828-38_1828-27del
NM_000069.3:c.1828-38_1828-27del MANE Select	NP_000060.2:n.1828-38_1828-27del