Canonical Allele Identifier: CA1011171707

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1660627564
• gnomAD v3: 1-201050978-TC-T
• gnomAD v4: 1-201050978-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201050979del , CM000663.2:g.201050979del	GRCh38
NC_000001.10:g.201020107del , CM000663.1:g.201020107del	GRCh37
NC_000001.9:g.199286730del	NCBI36
NG_009816.1:g.66588del
NG_009816.2:g.66588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4113+5del MANE Select	ENSP00000355192.3:n.4113+5del
ENST00000679417.1:c.*3276+5del	ENSP00000506706.1:n.*3276+5del
ENST00000680051.1:n.1239+5del
ENST00000680059.1:c.*1631+5del	ENSP00000504944.1:n.*1631+5del
ENST00000681078.1:c.4113+5del	ENSP00000506645.1:n.4113+5del
ENST00000681190.1:c.*295+5del	ENSP00000506428.1:n.*295+5del
ENST00000681874.1:c.4053+5del	ENSP00000505162.1:n.4053+5del
ENST00000362061.3:c.4113+5del	ENSP00000355192.3:n.4113+5del
ENST00000367338.7:c.4056+5del	ENSP00000356307.3:n.4056+5del
NM_000069.2:c.4113+5del	NP_000060.2:n.4113+5del
XM_005245478.2:c.4056+5del	XP_005245535.1:n.4056+5del
XM_005245478.3:c.4056+5del	XP_005245535.1:n.4056+5del
NM_000069.3:c.4113+5del MANE Select	NP_000060.2:n.4113+5del