Canonical Allele Identifier: CA2740215437

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075589_201075590insACG , CM000663.2:g.201075589_201075590insACG	GRCh38
NC_000001.10:g.201044717_201044718insACG , CM000663.1:g.201044717_201044718insACG	GRCh37
NC_000001.9:g.199311340_199311341insACG	NCBI36
NG_009816.1:g.41977_41978insCGT
NG_009816.2:g.41977_41978insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1853_1854insCGT MANE Select	ENSP00000355192.3:p.Ser618_Met619insVal
ENST00000679417.1:c.*1016_*1017insCGT	ENSP00000506706.1:n.*1016_*1017insCGT
ENST00000680059.1:c.1853_1854insCGT	ENSP00000504944.1:p.Ser618_Met619insVal
ENST00000681078.1:c.1853_1854insCGT	ENSP00000506645.1:p.Ser618_Met619insVal
ENST00000681190.1:c.1853_1854insCGT	ENSP00000506428.1:p.Ser618_Met619insVal
ENST00000681874.1:c.1853_1854insCGT	ENSP00000505162.1:p.Ser618_Met619insVal
ENST00000362061.3:c.1853_1854insCGT	ENSP00000355192.3:p.Ser618_Met619insVal
ENST00000367338.7:c.1853_1854insCGT	ENSP00000356307.3:p.Ser618_Met619insVal
NM_000069.2:c.1853_1854insCGT	NP_000060.2:p.Ser618_Met619insVal
XM_005245478.2:c.1853_1854insCGT	XP_005245535.1:p.Ser618_Met619insVal
XM_005245478.3:c.1853_1854insCGT	XP_005245535.1:p.Ser618_Met619insVal
NM_000069.3:c.1853_1854insCGT MANE Select	NP_000060.2:p.Ser618_Met619insVal