Canonical Allele Identifier: CA1219577754
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058727_201058728delinsGA , CM000663.2:g.201058727_201058728delinsGA GRCh38
NC_000001.10:g.201027855_201027856delinsGA , CM000663.1:g.201027855_201027856delinsGA GRCh37
NC_000001.9:g.199294478_199294479delinsGA NCBI36
NG_009816.1:g.58839_58840delinsTC
NG_009816.2:g.58839_58840delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3526-237_3526-236delinsTC MANE Select ENSP00000355192.3:n.3526-237_3526-236delinsTC
ENST00000679417.1:c.*2689-237_*2689-236delinsTC ENSP00000506706.1:n.*2689-237_*2689-236delinsTC
ENST00000680051.1:n.652-237_652-236delinsTC
ENST00000680059.1:c.*1044-237_*1044-236delinsTC ENSP00000504944.1:n.*1044-237_*1044-236delinsTC
ENST00000681078.1:c.3526-237_3526-236delinsTC ENSP00000506645.1:n.3526-237_3526-236delinsTC
ENST00000681190.1:c.3526-237_3526-236delinsTC ENSP00000506428.1:n.3526-237_3526-236delinsTC
ENST00000681874.1:c.3466-237_3466-236delinsTC ENSP00000505162.1:n.3466-237_3466-236delinsTC
ENST00000362061.3:c.3526-237_3526-236delinsTC ENSP00000355192.3:n.3526-237_3526-236delinsTC
ENST00000367338.7:c.3526-237_3526-236delinsTC ENSP00000356307.3:n.3526-237_3526-236delinsTC
NM_000069.2:c.3526-237_3526-236delinsTC NP_000060.2:n.3526-237_3526-236delinsTC
XM_005245478.2:c.3526-237_3526-236delinsTC XP_005245535.1:n.3526-237_3526-236delinsTC
XM_005245478.3:c.3526-237_3526-236delinsTC XP_005245535.1:n.3526-237_3526-236delinsTC
NM_000069.3:c.3526-237_3526-236delinsTC MANE Select NP_000060.2:n.3526-237_3526-236delinsTC