Canonical Allele Identifier: CA1219577724
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058671_201058672delinsCT , CM000663.2:g.201058671_201058672delinsCT GRCh38
NC_000001.10:g.201027799_201027800delinsCT , CM000663.1:g.201027799_201027800delinsCT GRCh37
NC_000001.9:g.199294422_199294423delinsCT NCBI36
NG_009816.1:g.58895_58896delinsAG
NG_009816.2:g.58895_58896delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3526-181_3526-180delinsAG MANE Select ENSP00000355192.3:n.3526-181_3526-180delinsAG
ENST00000679417.1:c.*2689-181_*2689-180delinsAG ENSP00000506706.1:n.*2689-181_*2689-180delinsAG
ENST00000680051.1:n.652-181_652-180delinsAG
ENST00000680059.1:c.*1044-181_*1044-180delinsAG ENSP00000504944.1:n.*1044-181_*1044-180delinsAG
ENST00000681078.1:c.3526-181_3526-180delinsAG ENSP00000506645.1:n.3526-181_3526-180delinsAG
ENST00000681190.1:c.3526-181_3526-180delinsAG ENSP00000506428.1:n.3526-181_3526-180delinsAG
ENST00000681874.1:c.3466-181_3466-180delinsAG ENSP00000505162.1:n.3466-181_3466-180delinsAG
ENST00000362061.3:c.3526-181_3526-180delinsAG ENSP00000355192.3:n.3526-181_3526-180delinsAG
ENST00000367338.7:c.3526-181_3526-180delinsAG ENSP00000356307.3:n.3526-181_3526-180delinsAG
NM_000069.2:c.3526-181_3526-180delinsAG NP_000060.2:n.3526-181_3526-180delinsAG
XM_005245478.2:c.3526-181_3526-180delinsAG XP_005245535.1:n.3526-181_3526-180delinsAG
XM_005245478.3:c.3526-181_3526-180delinsAG XP_005245535.1:n.3526-181_3526-180delinsAG
NM_000069.3:c.3526-181_3526-180delinsAG MANE Select NP_000060.2:n.3526-181_3526-180delinsAG