Canonical Allele Identifier: CA1140594301
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058664_201058665delinsAA , CM000663.2:g.201058664_201058665delinsAA GRCh38
NC_000001.10:g.201027792_201027793delinsAA , CM000663.1:g.201027792_201027793delinsAA GRCh37
NC_000001.9:g.199294415_199294416delinsAA NCBI36
NG_009816.1:g.58902_58903delinsTT
NG_009816.2:g.58902_58903delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3526-174_3526-173delinsTT MANE Select ENSP00000355192.3:n.3526-174_3526-173delinsTT
ENST00000679417.1:c.*2689-174_*2689-173delinsTT ENSP00000506706.1:n.*2689-174_*2689-173delinsTT
ENST00000680051.1:n.652-174_652-173delinsTT
ENST00000680059.1:c.*1044-174_*1044-173delinsTT ENSP00000504944.1:n.*1044-174_*1044-173delinsTT
ENST00000681078.1:c.3526-174_3526-173delinsTT ENSP00000506645.1:n.3526-174_3526-173delinsTT
ENST00000681190.1:c.3526-174_3526-173delinsTT ENSP00000506428.1:n.3526-174_3526-173delinsTT
ENST00000681874.1:c.3466-174_3466-173delinsTT ENSP00000505162.1:n.3466-174_3466-173delinsTT
ENST00000362061.3:c.3526-174_3526-173delinsTT ENSP00000355192.3:n.3526-174_3526-173delinsTT
ENST00000367338.7:c.3526-174_3526-173delinsTT ENSP00000356307.3:n.3526-174_3526-173delinsTT
NM_000069.2:c.3526-174_3526-173delinsTT NP_000060.2:n.3526-174_3526-173delinsTT
XM_005245478.2:c.3526-174_3526-173delinsTT XP_005245535.1:n.3526-174_3526-173delinsTT
XM_005245478.3:c.3526-174_3526-173delinsTT XP_005245535.1:n.3526-174_3526-173delinsTT
NM_000069.3:c.3526-174_3526-173delinsTT MANE Select NP_000060.2:n.3526-174_3526-173delinsTT