Canonical Allele Identifier: CA35976149

Gene: CACNA1S

Linked Data

• dbSNP Id: rs867212154

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075557_201075558delinsTT , CM000663.2:g.201075557_201075558delinsTT	GRCh38
NC_000001.10:g.201044685_201044686delinsTT , CM000663.1:g.201044685_201044686delinsTT	GRCh37
NC_000001.9:g.199311308_199311309delinsTT	NCBI36
NG_009816.1:g.42009_42010delinsAA
NG_009816.2:g.42009_42010delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1885_1886delinsAA MANE Select	ENSP00000355192.3:p.Gly629Lys
ENST00000679417.1:c.*1048_*1049delinsAA	ENSP00000506706.1:n.*1048_*1049delinsAA
ENST00000680059.1:c.1885_1886delinsAA	ENSP00000504944.1:p.Gly629Lys
ENST00000681078.1:c.1885_1886delinsAA	ENSP00000506645.1:p.Gly629Lys
ENST00000681190.1:c.1885_1886delinsAA	ENSP00000506428.1:p.Gly629Lys
ENST00000681874.1:c.1885_1886delinsAA	ENSP00000505162.1:p.Gly629Lys
ENST00000362061.3:c.1885_1886delinsAA	ENSP00000355192.3:p.Gly629Lys
ENST00000367338.7:c.1885_1886delinsAA	ENSP00000356307.3:p.Gly629Lys
NM_000069.2:c.1885_1886delinsAA	NP_000060.2:p.Gly629Lys
XM_005245478.2:c.1885_1886delinsAA	XP_005245535.1:p.Gly629Lys
XM_005245478.3:c.1885_1886delinsAA	XP_005245535.1:p.Gly629Lys
NM_000069.3:c.1885_1886delinsAA MANE Select	NP_000060.2:p.Gly629Lys