Canonical Allele Identifier: CA2740215431
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201075553_201075554insT , CM000663.2:g.201075553_201075554insT GRCh38
NC_000001.10:g.201044681_201044682insT , CM000663.1:g.201044681_201044682insT GRCh37
NC_000001.9:g.199311304_199311305insT NCBI36
NG_009816.1:g.42013_42014insA
NG_009816.2:g.42013_42014insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1889_1890insA MANE Select ENSP00000355192.3:p.Ser631ValfsTer?
ENST00000679417.1:c.*1052_*1053insA ENSP00000506706.1:n.*1052_*1053insA
ENST00000680059.1:c.1889_1890insA ENSP00000504944.1:p.Ser631ValfsTer?
ENST00000681078.1:c.1889_1890insA ENSP00000506645.1:p.Ser631ValfsTer?
ENST00000681190.1:c.1889_1890insA ENSP00000506428.1:p.Ser631ValfsTer?
ENST00000681874.1:c.1889_1890insA ENSP00000505162.1:p.Ser631ValfsTer?
ENST00000362061.3:c.1889_1890insA ENSP00000355192.3:p.Ser631ValfsTer?
ENST00000367338.7:c.1889_1890insA ENSP00000356307.3:p.Ser631ValfsTer?
NM_000069.2:c.1889_1890insA NP_000060.2:p.Ser631ValfsTer?
XM_005245478.2:c.1889_1890insA XP_005245535.1:p.Ser631ValfsTer?
XM_005245478.3:c.1889_1890insA XP_005245535.1:p.Ser631ValfsTer?
NM_000069.3:c.1889_1890insA MANE Select NP_000060.2:p.Ser631ValfsTer?