Canonical Allele Identifier: CA1219584755

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076952_201076955delinsTGTC , CM000663.2:g.201076952_201076955delinsTGTC	GRCh38
NC_000001.10:g.201046080_201046083delinsTGTC , CM000663.1:g.201046080_201046083delinsTGTC	GRCh37
NC_000001.9:g.199312703_199312706delinsTGTC	NCBI36
NG_009816.1:g.40612_40615delinsGACA
NG_009816.2:g.40612_40615delinsGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1792_1795delinsGACA MANE Select	ENSP00000355192.3:p.Asp598=
ENST00000679417.1:c.*955_*958delinsGACA	ENSP00000506706.1:n.*955_*958delinsGACA
ENST00000680059.1:c.1792_1795delinsGACA	ENSP00000504944.1:p.Asp598=
ENST00000681078.1:c.1792_1795delinsGACA	ENSP00000506645.1:p.Asp598=
ENST00000681190.1:c.1792_1795delinsGACA	ENSP00000506428.1:p.Asp598=
ENST00000681874.1:c.1792_1795delinsGACA	ENSP00000505162.1:p.Asp598=
ENST00000362061.3:c.1792_1795delinsGACA	ENSP00000355192.3:p.Asp598=
ENST00000367338.7:c.1792_1795delinsGACA	ENSP00000356307.3:p.Asp598=
NM_000069.2:c.1792_1795delinsGACA	NP_000060.2:p.Asp598=
XM_005245478.2:c.1792_1795delinsGACA	XP_005245535.1:p.Asp598=
XM_005245478.3:c.1792_1795delinsGACA	XP_005245535.1:p.Asp598=
NM_000069.3:c.1792_1795delinsGACA MANE Select	NP_000060.2:p.Asp598=