Canonical Allele Identifier: CA2841975295

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060620dup , CM000663.2:g.201060620dup	GRCh38
NC_000001.10:g.201029748dup , CM000663.1:g.201029748dup	GRCh37
NC_000001.9:g.199296371dup	NCBI36
NG_009816.1:g.56949dup
NG_009816.2:g.56949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3414+40dup MANE Select	ENSP00000355192.3:n.3414+40dup
ENST00000679417.1:c.*2577+40dup	ENSP00000506706.1:n.*2577+40dup
ENST00000680051.1:n.540+40dup
ENST00000680059.1:c.*932+40dup	ENSP00000504944.1:n.*932+40dup
ENST00000681078.1:c.3414+40dup	ENSP00000506645.1:n.3414+40dup
ENST00000681190.1:c.3414+40dup	ENSP00000506428.1:n.3414+40dup
ENST00000681874.1:c.3354+40dup	ENSP00000505162.1:n.3354+40dup
ENST00000362061.3:c.3414+40dup	ENSP00000355192.3:n.3414+40dup
ENST00000367338.7:c.3414+40dup	ENSP00000356307.3:n.3414+40dup
NM_000069.2:c.3414+40dup	NP_000060.2:n.3414+40dup
XM_005245478.2:c.3414+40dup	XP_005245535.1:n.3414+40dup
XM_005245478.3:c.3414+40dup	XP_005245535.1:n.3414+40dup
NM_000069.3:c.3414+40dup MANE Select	NP_000060.2:n.3414+40dup