Canonical Allele Identifier: CA2842162583
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058531dup , CM000663.2:g.201058531dup GRCh38
NC_000001.10:g.201027659dup , CM000663.1:g.201027659dup GRCh37
NC_000001.9:g.199294282dup NCBI36
NG_009816.1:g.59038dup
NG_009816.2:g.59038dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3526-38dup MANE Select ENSP00000355192.3:n.3526-38dup
ENST00000679417.1:c.*2689-38dup ENSP00000506706.1:n.*2689-38dup
ENST00000680051.1:n.652-38dup
ENST00000680059.1:c.*1044-38dup ENSP00000504944.1:n.*1044-38dup
ENST00000681078.1:c.3526-38dup ENSP00000506645.1:n.3526-38dup
ENST00000681190.1:c.3526-38dup ENSP00000506428.1:n.3526-38dup
ENST00000681874.1:c.3466-38dup ENSP00000505162.1:n.3466-38dup
ENST00000362061.3:c.3526-38dup ENSP00000355192.3:n.3526-38dup
ENST00000367338.7:c.3526-38dup ENSP00000356307.3:n.3526-38dup
NM_000069.2:c.3526-38dup NP_000060.2:n.3526-38dup
XM_005245478.2:c.3526-38dup XP_005245535.1:n.3526-38dup
XM_005245478.3:c.3526-38dup XP_005245535.1:n.3526-38dup
NM_000069.3:c.3526-38dup MANE Select NP_000060.2:n.3526-38dup