Canonical Allele Identifier: CA2649766013

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075463-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075463_201075464insCT , CM000663.2:g.201075463_201075464insCT	GRCh38
NC_000001.10:g.201044591_201044592insCT , CM000663.1:g.201044591_201044592insCT	GRCh37
NC_000001.9:g.199311214_199311215insCT	NCBI36
NG_009816.1:g.42103_42104insAG
NG_009816.2:g.42103_42104insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+31_1948+32insAG MANE Select	ENSP00000355192.3:n.1948+31_1948+32insAG
ENST00000679417.1:c.*1111+31_*1111+32insAG	ENSP00000506706.1:n.*1111+31_*1111+32insAG
ENST00000680059.1:c.1948+31_1948+32insAG	ENSP00000504944.1:n.1948+31_1948+32insAG
ENST00000681078.1:c.1948+31_1948+32insAG	ENSP00000506645.1:n.1948+31_1948+32insAG
ENST00000681190.1:c.1948+31_1948+32insAG	ENSP00000506428.1:n.1948+31_1948+32insAG
ENST00000681874.1:c.1948+31_1948+32insAG	ENSP00000505162.1:n.1948+31_1948+32insAG
ENST00000362061.3:c.1948+31_1948+32insAG	ENSP00000355192.3:n.1948+31_1948+32insAG
ENST00000367338.7:c.1948+31_1948+32insAG	ENSP00000356307.3:n.1948+31_1948+32insAG
NM_000069.2:c.1948+31_1948+32insAG	NP_000060.2:n.1948+31_1948+32insAG
XM_005245478.2:c.1948+31_1948+32insAG	XP_005245535.1:n.1948+31_1948+32insAG
XM_005245478.3:c.1948+31_1948+32insAG	XP_005245535.1:n.1948+31_1948+32insAG
NM_000069.3:c.1948+31_1948+32insAG MANE Select	NP_000060.2:n.1948+31_1948+32insAG