Canonical Allele Identifier: CA2747336676

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075460_201075461insC , CM000663.2:g.201075460_201075461insC	GRCh38
NC_000001.10:g.201044588_201044589insC , CM000663.1:g.201044588_201044589insC	GRCh37
NC_000001.9:g.199311211_199311212insC	NCBI36
NG_009816.1:g.42106_42107insG
NG_009816.2:g.42106_42107insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+34_1948+35insG MANE Select	ENSP00000355192.3:n.1948+34_1948+35insG
ENST00000679417.1:c.*1111+34_*1111+35insG	ENSP00000506706.1:n.*1111+34_*1111+35insG
ENST00000680059.1:c.1948+34_1948+35insG	ENSP00000504944.1:n.1948+34_1948+35insG
ENST00000681078.1:c.1948+34_1948+35insG	ENSP00000506645.1:n.1948+34_1948+35insG
ENST00000681190.1:c.1948+34_1948+35insG	ENSP00000506428.1:n.1948+34_1948+35insG
ENST00000681874.1:c.1948+34_1948+35insG	ENSP00000505162.1:n.1948+34_1948+35insG
ENST00000362061.3:c.1948+34_1948+35insG	ENSP00000355192.3:n.1948+34_1948+35insG
ENST00000367338.7:c.1948+34_1948+35insG	ENSP00000356307.3:n.1948+34_1948+35insG
NM_000069.2:c.1948+34_1948+35insG	NP_000060.2:n.1948+34_1948+35insG
XM_005245478.2:c.1948+34_1948+35insG	XP_005245535.1:n.1948+34_1948+35insG
XM_005245478.3:c.1948+34_1948+35insG	XP_005245535.1:n.1948+34_1948+35insG
NM_000069.3:c.1948+34_1948+35insG MANE Select	NP_000060.2:n.1948+34_1948+35insG