Canonical Allele Identifier: CA1219574619

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075605_201075607delinsCCT , CM000663.2:g.201075605_201075607delinsCCT	GRCh38
NC_000001.10:g.201044733_201044735delinsCCT , CM000663.1:g.201044733_201044735delinsCCT	GRCh37
NC_000001.9:g.199311356_199311358delinsCCT	NCBI36
NG_009816.1:g.41960_41962delinsAGG
NG_009816.2:g.41960_41962delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1836_1838delinsAGG MANE Select	ENSP00000355192.3:p.Thr612=
ENST00000679417.1:c.*999_*1001delinsAGG	ENSP00000506706.1:n.*999_*1001delinsAGG
ENST00000680059.1:c.1836_1838delinsAGG	ENSP00000504944.1:p.Thr612=
ENST00000681078.1:c.1836_1838delinsAGG	ENSP00000506645.1:p.Thr612=
ENST00000681190.1:c.1836_1838delinsAGG	ENSP00000506428.1:p.Thr612=
ENST00000681874.1:c.1836_1838delinsAGG	ENSP00000505162.1:p.Thr612=
ENST00000362061.3:c.1836_1838delinsAGG	ENSP00000355192.3:p.Thr612=
ENST00000367338.7:c.1836_1838delinsAGG	ENSP00000356307.3:p.Thr612=
NM_000069.2:c.1836_1838delinsAGG	NP_000060.2:p.Thr612=
XM_005245478.2:c.1836_1838delinsAGG	XP_005245535.1:p.Thr612=
XM_005245478.3:c.1836_1838delinsAGG	XP_005245535.1:p.Thr612=
NM_000069.3:c.1836_1838delinsAGG MANE Select	NP_000060.2:p.Thr612=