Canonical Allele Identifier: CA2649766012

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075461-A-AACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075461_201075462insACC , CM000663.2:g.201075461_201075462insACC	GRCh38
NC_000001.10:g.201044589_201044590insACC , CM000663.1:g.201044589_201044590insACC	GRCh37
NC_000001.9:g.199311212_199311213insACC	NCBI36
NG_009816.1:g.42105_42106insGGT
NG_009816.2:g.42105_42106insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+33_1948+34insGGT MANE Select	ENSP00000355192.3:n.1948+33_1948+34insGGT
ENST00000679417.1:c.*1111+33_*1111+34insGGT	ENSP00000506706.1:n.*1111+33_*1111+34insGGT
ENST00000680059.1:c.1948+33_1948+34insGGT	ENSP00000504944.1:n.1948+33_1948+34insGGT
ENST00000681078.1:c.1948+33_1948+34insGGT	ENSP00000506645.1:n.1948+33_1948+34insGGT
ENST00000681190.1:c.1948+33_1948+34insGGT	ENSP00000506428.1:n.1948+33_1948+34insGGT
ENST00000681874.1:c.1948+33_1948+34insGGT	ENSP00000505162.1:n.1948+33_1948+34insGGT
ENST00000362061.3:c.1948+33_1948+34insGGT	ENSP00000355192.3:n.1948+33_1948+34insGGT
ENST00000367338.7:c.1948+33_1948+34insGGT	ENSP00000356307.3:n.1948+33_1948+34insGGT
NM_000069.2:c.1948+33_1948+34insGGT	NP_000060.2:n.1948+33_1948+34insGGT
XM_005245478.2:c.1948+33_1948+34insGGT	XP_005245535.1:n.1948+33_1948+34insGGT
XM_005245478.3:c.1948+33_1948+34insGGT	XP_005245535.1:n.1948+33_1948+34insGGT
NM_000069.3:c.1948+33_1948+34insGGT MANE Select	NP_000060.2:n.1948+33_1948+34insGGT