Canonical Allele Identifier: CA2649760994

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201060634-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060638_201060639dup , CM000663.2:g.201060638_201060639dup	GRCh38
NC_000001.10:g.201029766_201029767dup , CM000663.1:g.201029766_201029767dup	GRCh37
NC_000001.9:g.199296389_199296390dup	NCBI36
NG_009816.1:g.56931_56932dup
NG_009816.2:g.56931_56932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3414+22_3414+23dup MANE Select	ENSP00000355192.3:n.3414+22_3414+23dup
ENST00000679417.1:c.*2577+22_*2577+23dup	ENSP00000506706.1:n.*2577+22_*2577+23dup
ENST00000680051.1:n.540+22_540+23dup
ENST00000680059.1:c.*932+22_*932+23dup	ENSP00000504944.1:n.*932+22_*932+23dup
ENST00000681078.1:c.3414+22_3414+23dup	ENSP00000506645.1:n.3414+22_3414+23dup
ENST00000681190.1:c.3414+22_3414+23dup	ENSP00000506428.1:n.3414+22_3414+23dup
ENST00000681874.1:c.3354+22_3354+23dup	ENSP00000505162.1:n.3354+22_3354+23dup
ENST00000362061.3:c.3414+22_3414+23dup	ENSP00000355192.3:n.3414+22_3414+23dup
ENST00000367338.7:c.3414+22_3414+23dup	ENSP00000356307.3:n.3414+22_3414+23dup
NM_000069.2:c.3414+22_3414+23dup	NP_000060.2:n.3414+22_3414+23dup
XM_005245478.2:c.3414+22_3414+23dup	XP_005245535.1:n.3414+22_3414+23dup
XM_005245478.3:c.3414+22_3414+23dup	XP_005245535.1:n.3414+22_3414+23dup
NM_000069.3:c.3414+22_3414+23dup MANE Select	NP_000060.2:n.3414+22_3414+23dup