Canonical Allele Identifier: CA2649765992

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075456-C-CCCCCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075458_201075459insCCAGCC , CM000663.2:g.201075458_201075459insCCAGCC	GRCh38
NC_000001.10:g.201044586_201044587insCCAGCC , CM000663.1:g.201044586_201044587insCCAGCC	GRCh37
NC_000001.9:g.199311209_199311210insCCAGCC	NCBI36
NG_009816.1:g.42110_42111insCTGGGG
NG_009816.2:g.42110_42111insCTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+38_1948+39insCTGGGG MANE Select	ENSP00000355192.3:n.1948+38_1948+39insCTGGGG
ENST00000679417.1:c.*1111+38_*1111+39insCTGGGG	ENSP00000506706.1:n.*1111+38_*1111+39insCTGGGG
ENST00000680059.1:c.1948+38_1948+39insCTGGGG	ENSP00000504944.1:n.1948+38_1948+39insCTGGGG
ENST00000681078.1:c.1948+38_1948+39insCTGGGG	ENSP00000506645.1:n.1948+38_1948+39insCTGGGG
ENST00000681190.1:c.1948+38_1948+39insCTGGGG	ENSP00000506428.1:n.1948+38_1948+39insCTGGGG
ENST00000681874.1:c.1948+38_1948+39insCTGGGG	ENSP00000505162.1:n.1948+38_1948+39insCTGGGG
ENST00000362061.3:c.1948+38_1948+39insCTGGGG	ENSP00000355192.3:n.1948+38_1948+39insCTGGGG
ENST00000367338.7:c.1948+38_1948+39insCTGGGG	ENSP00000356307.3:n.1948+38_1948+39insCTGGGG
NM_000069.2:c.1948+38_1948+39insCTGGGG	NP_000060.2:n.1948+38_1948+39insCTGGGG
XM_005245478.2:c.1948+38_1948+39insCTGGGG	XP_005245535.1:n.1948+38_1948+39insCTGGGG
XM_005245478.3:c.1948+38_1948+39insCTGGGG	XP_005245535.1:n.1948+38_1948+39insCTGGGG
NM_000069.3:c.1948+38_1948+39insCTGGGG MANE Select	NP_000060.2:n.1948+38_1948+39insCTGGGG