Canonical Allele Identifier: CA2649765880
Gene: CACNA1S HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201075413_201075416del , CM000663.2:g.201075413_201075416del GRCh38
NC_000001.10:g.201044541_201044544del , CM000663.1:g.201044541_201044544del GRCh37
NC_000001.9:g.199311164_199311167del NCBI36
NG_009816.1:g.42151_42154del
NG_009816.2:g.42151_42154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1948+79_1948+82del MANE Select ENSP00000355192.3:n.1948+79_1948+82del
ENST00000679417.1:c.*1111+79_*1111+82del ENSP00000506706.1:n.*1111+79_*1111+82del
ENST00000680059.1:c.1948+79_1948+82del ENSP00000504944.1:n.1948+79_1948+82del
ENST00000681078.1:c.1948+79_1948+82del ENSP00000506645.1:n.1948+79_1948+82del
ENST00000681190.1:c.1948+79_1948+82del ENSP00000506428.1:n.1948+79_1948+82del
ENST00000681874.1:c.1948+79_1948+82del ENSP00000505162.1:n.1948+79_1948+82del
ENST00000362061.3:c.1948+79_1948+82del ENSP00000355192.3:n.1948+79_1948+82del
ENST00000367338.7:c.1948+79_1948+82del ENSP00000356307.3:n.1948+79_1948+82del
NM_000069.2:c.1948+79_1948+82del NP_000060.2:n.1948+79_1948+82del
XM_005245478.2:c.1948+79_1948+82del XP_005245535.1:n.1948+79_1948+82del
XM_005245478.3:c.1948+79_1948+82del XP_005245535.1:n.1948+79_1948+82del
NM_000069.3:c.1948+79_1948+82del MANE Select NP_000060.2:n.1948+79_1948+82del