Canonical Allele Identifier: CA1219574660
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201075622_201075633delinsGGAGGGAGGATA , CM000663.2:g.201075622_201075633delinsGGAGGGAGGATA GRCh38
NC_000001.10:g.201044750_201044761delinsGGAGGGAGGATA , CM000663.1:g.201044750_201044761delinsGGAGGGAGGATA GRCh37
NC_000001.9:g.199311373_199311384delinsGGAGGGAGGATA NCBI36
NG_009816.1:g.41934_41945delinsTATCCTCCCTCC
NG_009816.2:g.41934_41945delinsTATCCTCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1828-18_1828-7delinsTATCCTCCCTCC MANE Select ENSP00000355192.3:n.1828-18_1828-7delinsTATCCTCCCTCC
ENST00000679417.1:c.*991-18_*991-7delinsTATCCTCCCTCC ENSP00000506706.1:n.*991-18_*991-7delinsTATCCTCCCTCC
ENST00000680059.1:c.1828-18_1828-7delinsTATCCTCCCTCC ENSP00000504944.1:n.1828-18_1828-7delinsTATCCTCCCTCC
ENST00000681078.1:c.1828-18_1828-7delinsTATCCTCCCTCC ENSP00000506645.1:n.1828-18_1828-7delinsTATCCTCCCTCC
ENST00000681190.1:c.1828-18_1828-7delinsTATCCTCCCTCC ENSP00000506428.1:n.1828-18_1828-7delinsTATCCTCCCTCC
ENST00000681874.1:c.1828-18_1828-7delinsTATCCTCCCTCC ENSP00000505162.1:n.1828-18_1828-7delinsTATCCTCCCTCC
ENST00000362061.3:c.1828-18_1828-7delinsTATCCTCCCTCC ENSP00000355192.3:n.1828-18_1828-7delinsTATCCTCCCTCC
ENST00000367338.7:c.1828-18_1828-7delinsTATCCTCCCTCC ENSP00000356307.3:n.1828-18_1828-7delinsTATCCTCCCTCC
NM_000069.2:c.1828-18_1828-7delinsTATCCTCCCTCC NP_000060.2:n.1828-18_1828-7delinsTATCCTCCCTCC
XM_005245478.2:c.1828-18_1828-7delinsTATCCTCCCTCC XP_005245535.1:n.1828-18_1828-7delinsTATCCTCCCTCC
XM_005245478.3:c.1828-18_1828-7delinsTATCCTCCCTCC XP_005245535.1:n.1828-18_1828-7delinsTATCCTCCCTCC
NM_000069.3:c.1828-18_1828-7delinsTATCCTCCCTCC MANE Select NP_000060.2:n.1828-18_1828-7delinsTATCCTCCCTCC