Canonical Allele Identifier: CA1219585338
Gene: CACNA1S HGNC NCBI

Linked Data

dbSNP Id: rs1661709363

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201078329del , CM000663.2:g.201078329del GRCh38
NC_000001.10:g.201047457del , CM000663.1:g.201047457del GRCh37
NC_000001.9:g.199314080del NCBI36
NG_009816.1:g.39239del
NG_009816.2:g.39239del

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1394-224del MANE Select ENSP00000355192.3:n.1394-224del
ENST00000679417.1:c.*557-224del ENSP00000506706.1:n.*557-224del
ENST00000680059.1:c.1394-224del ENSP00000504944.1:n.1394-224del
ENST00000681078.1:c.1394-224del ENSP00000506645.1:n.1394-224del
ENST00000681190.1:c.1394-224del ENSP00000506428.1:n.1394-224del
ENST00000681874.1:c.1394-224del ENSP00000505162.1:n.1394-224del
ENST00000362061.3:c.1394-224del ENSP00000355192.3:n.1394-224del
ENST00000367338.7:c.1394-224del ENSP00000356307.3:n.1394-224del
NM_000069.2:c.1394-224del NP_000060.2:n.1394-224del
XM_005245478.2:c.1394-224del XP_005245535.1:n.1394-224del
XM_005245478.3:c.1394-224del XP_005245535.1:n.1394-224del
NM_000069.3:c.1394-224del MANE Select NP_000060.2:n.1394-224del