Canonical Allele Identifier: CA3260267050

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078005_201078007delinsTGA , CM000663.2:g.201078005_201078007delinsTGA	GRCh38
NC_000001.10:g.201047133_201047135delinsTGA , CM000663.1:g.201047133_201047135delinsTGA	GRCh37
NC_000001.9:g.199313756_199313758delinsTGA	NCBI36
NG_009816.1:g.39560_39562delinsTCA
NG_009816.2:g.39560_39562delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.1491_1493delinsTCA MANE Select	NP_000060.2:p.Arg498His
ENST00000362061.4:c.1491_1493delinsTCA MANE Select	ENSP00000355192.3:p.Arg498His
NM_000069.2:c.1491_1493delinsTCA	NP_000060.2:p.Arg498His
ENST00000362061.3:c.1491_1493delinsTCA	ENSP00000355192.3:p.Arg498His
ENST00000367338.7:c.1491_1493delinsTCA	ENSP00000356307.3:p.Arg498His
ENST00000679417.1:c.*654_*656delinsTCA	ENSP00000506706.1:n.*654_*656delinsTCA
ENST00000680059.1:c.1491_1493delinsTCA	ENSP00000504944.1:p.Arg498His
ENST00000681078.1:c.1491_1493delinsTCA	ENSP00000506645.1:p.Arg498His
ENST00000681190.1:c.1491_1493delinsTCA	ENSP00000506428.1:p.Arg498His
ENST00000681874.1:c.1491_1493delinsTCA	ENSP00000505162.1:p.Arg498His
XM_005245478.2:c.1491_1493delinsTCA	XP_005245535.1:p.Arg498His
XM_005245478.3:c.1491_1493delinsTCA	XP_005245535.1:p.Arg498His