Canonical Allele Identifier: CA422719821
Gene: CACNA1S HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058406dup , CM000663.2:g.201058406dup GRCh38
NC_000001.10:g.201027534dup , CM000663.1:g.201027534dup GRCh37
NC_000001.9:g.199294157dup NCBI36
NG_009816.1:g.59161dup
NG_009816.2:g.59161dup

Transcript Alleles

HGVS Amino-acid change
ENST00000362061.4:c.3609+2dup MANE Select ENSP00000355192.3:n.3609+2dup
ENST00000679417.1:c.*2772+2dup ENSP00000506706.1:n.*2772+2dup
ENST00000680051.1:n.735+2dup
ENST00000680059.1:c.*1127+2dup ENSP00000504944.1:n.*1127+2dup
ENST00000681078.1:c.3609+2dup ENSP00000506645.1:n.3609+2dup
ENST00000681190.1:c.3609+2dup ENSP00000506428.1:n.3609+2dup
ENST00000681874.1:c.3549+2dup ENSP00000505162.1:n.3549+2dup
ENST00000362061.3:c.3609+2dup ENSP00000355192.3:n.3609+2dup
ENST00000367338.7:c.3609+2dup ENSP00000356307.3:n.3609+2dup
NM_000069.2:c.3609+2dup NP_000060.2:n.3609+2dup
XM_005245478.2:c.3609+2dup XP_005245535.1:n.3609+2dup
XM_005245478.3:c.3609+2dup XP_005245535.1:n.3609+2dup
NM_000069.3:c.3609+2dup MANE Select NP_000060.2:n.3609+2dup