Canonical Allele Identifier: CA2573983463
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201077146_201077147del , CM000663.2:g.201077146_201077147del GRCh38
NC_000001.10:g.201046274_201046275del , CM000663.1:g.201046274_201046275del GRCh37
NC_000001.9:g.199312897_199312898del NCBI36
NG_009816.1:g.40422_40423del
NG_009816.2:g.40422_40423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1620-18_1620-17del MANE Select ENSP00000355192.3:n.1620-18_1620-17del
ENST00000679417.1:c.*783-18_*783-17del ENSP00000506706.1:n.*783-18_*783-17del
ENST00000680059.1:c.1620-18_1620-17del ENSP00000504944.1:n.1620-18_1620-17del
ENST00000681078.1:c.1620-18_1620-17del ENSP00000506645.1:n.1620-18_1620-17del
ENST00000681190.1:c.1620-18_1620-17del ENSP00000506428.1:n.1620-18_1620-17del
ENST00000681874.1:c.1620-18_1620-17del ENSP00000505162.1:n.1620-18_1620-17del
ENST00000362061.3:c.1620-18_1620-17del ENSP00000355192.3:n.1620-18_1620-17del
ENST00000367338.7:c.1620-18_1620-17del ENSP00000356307.3:n.1620-18_1620-17del
NM_000069.2:c.1620-18_1620-17del NP_000060.2:n.1620-18_1620-17del
XM_005245478.2:c.1620-18_1620-17del XP_005245535.1:n.1620-18_1620-17del
XM_005245478.3:c.1620-18_1620-17del XP_005245535.1:n.1620-18_1620-17del
NM_000069.3:c.1620-18_1620-17del MANE Select NP_000060.2:n.1620-18_1620-17del