Canonical Allele Identifier: CA2574108368
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058523del , CM000663.2:g.201058523del GRCh38
NC_000001.10:g.201027651del , CM000663.1:g.201027651del GRCh37
NC_000001.9:g.199294274del NCBI36
NG_009816.1:g.59048del
NG_009816.2:g.59048del

Transcript Alleles

HGVS Amino-acid change
ENST00000362061.4:c.3526-28del MANE Select ENSP00000355192.3:n.3526-28del
ENST00000679417.1:c.*2689-28del ENSP00000506706.1:n.*2689-28del
ENST00000680051.1:n.652-28del
ENST00000680059.1:c.*1044-28del ENSP00000504944.1:n.*1044-28del
ENST00000681078.1:c.3526-28del ENSP00000506645.1:n.3526-28del
ENST00000681190.1:c.3526-28del ENSP00000506428.1:n.3526-28del
ENST00000681874.1:c.3466-28del ENSP00000505162.1:n.3466-28del
ENST00000362061.3:c.3526-28del ENSP00000355192.3:n.3526-28del
ENST00000367338.7:c.3526-28del ENSP00000356307.3:n.3526-28del
NM_000069.2:c.3526-28del NP_000060.2:n.3526-28del
XM_005245478.2:c.3526-28del XP_005245535.1:n.3526-28del
XM_005245478.3:c.3526-28del XP_005245535.1:n.3526-28del
NM_000069.3:c.3526-28del MANE Select NP_000060.2:n.3526-28del