Canonical Allele Identifier: CA1268208258
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1674435139

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575482_88575483insATCATAGCTCC , CM000664.2:g.88575482_88575483insATCATAGCTCC GRCh38
NC_000002.11:g.88875000_88875001insATCATAGCTCC , CM000664.1:g.88875000_88875001insATCATAGCTCC GRCh37
NC_000002.10:g.88656115_88656116insATCATAGCTCC NCBI36
NG_016424.1:g.57094_57095insGGAGCTATGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-37_1865-36insGGAGCTATGAT
ENST00000682276.1:n.1482-37_1482-36insGGAGCTATGAT
ENST00000682892.1:c.1584-37_1584-36insGGAGCTATGAT ENSP00000507214.1:n.1584-37_1584-36insGGAGCTATGAT
ENST00000682952.1:n.1676-37_1676-36insGGAGCTATGAT
ENST00000684455.1:c.1250-37_1250-36insGGAGCTATGAT
ENST00000684642.1:c.1434-37_1434-36insGGAGCTATGAT ENSP00000507355.1:n.1434-37_1434-36insGGAGCTATGAT
ENST00000684740.1:n.2215-37_2215-36insGGAGCTATGAT
ENST00000303236.9:c.2037-37_2037-36insGGAGCTATGAT MANE Select ENSP00000307235.3:n.2037-37_2037-36insGGAGCTATGAT
ENST00000652099.1:c.2231-37_2231-36insGGAGCTATGAT
ENST00000652736.1:n.1913-37_1913-36insGGAGCTATGAT
ENST00000303236.7:c.2037-37_2037-36insGGAGCTATGAT ENSP00000307235.3:n.2037-37_2037-36insGGAGCTATGAT
ENST00000415570.1:c.1674-37_1674-36insGGAGCTATGAT ENSP00000412076.1:n.1674-37_1674-36insGGAGCTATGAT
ENST00000419748.5:c.1584-37_1584-36insGGAGCTATGAT ENSP00000408325.1:n.1584-37_1584-36insGGAGCTATGAT
ENST00000478003.1:n.603-37_603-36insGGAGCTATGAT
NM_001313915.1:c.1584-37_1584-36insGGAGCTATGAT NP_001300844.1:n.1584-37_1584-36insGGAGCTATGAT
NM_004836.5:c.2037-37_2037-36insGGAGCTATGAT NP_004827.4:n.2037-37_2037-36insGGAGCTATGAT
NM_004836.6:c.2037-37_2037-36insGGAGCTATGAT NP_004827.4:n.2037-37_2037-36insGGAGCTATGAT
NR_110236.1:n.1619_1620insATCATAGCTCC
XM_005264649.3:c.1353-37_1353-36insGGAGCTATGAT XP_005264706.1:n.1353-37_1353-36insGGAGCTATGAT
XR_939749.1:n.2316-37_2316-36insGGAGCTATGAT
XM_017005376.2:c.1353-37_1353-36insGGAGCTATGAT XP_016860865.1:n.1353-37_1353-36insGGAGCTATGAT
NM_004836.7:c.2037-37_2037-36insGGAGCTATGAT MANE Select NP_004827.4:n.2037-37_2037-36insGGAGCTATGAT
NM_001313915.2:c.1584-37_1584-36insGGAGCTATGAT NP_001300844.1:n.1584-37_1584-36insGGAGCTATGAT