Canonical Allele Identifier: CA1268208283
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575570_88575571delinsAC , CM000664.2:g.88575570_88575571delinsAC GRCh38
NC_000002.11:g.88875088_88875089delinsAC , CM000664.1:g.88875088_88875089delinsAC GRCh37
NC_000002.10:g.88656203_88656204delinsAC NCBI36
NG_016424.1:g.57006_57007delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-125_1865-124delinsGT
ENST00000682276.1:n.1482-125_1482-124delinsGT
ENST00000682892.1:c.1584-125_1584-124delinsGT ENSP00000507214.1:n.1584-125_1584-124delinsGT
ENST00000682952.1:n.1676-125_1676-124delinsGT
ENST00000684455.1:c.1250-125_1250-124delinsGT
ENST00000684642.1:c.1434-125_1434-124delinsGT ENSP00000507355.1:n.1434-125_1434-124delinsGT
ENST00000684740.1:n.2215-125_2215-124delinsGT
ENST00000303236.9:c.2037-125_2037-124delinsGT MANE Select ENSP00000307235.3:n.2037-125_2037-124delinsGT
ENST00000652099.1:c.2231-125_2231-124delinsGT
ENST00000652736.1:n.1913-125_1913-124delinsGT
ENST00000303236.7:c.2037-125_2037-124delinsGT ENSP00000307235.3:n.2037-125_2037-124delinsGT
ENST00000415570.1:c.1674-125_1674-124delinsGT ENSP00000412076.1:n.1674-125_1674-124delinsGT
ENST00000419748.5:c.1584-125_1584-124delinsGT ENSP00000408325.1:n.1584-125_1584-124delinsGT
ENST00000478003.1:n.603-125_603-124delinsGT
NM_001313915.1:c.1584-125_1584-124delinsGT NP_001300844.1:n.1584-125_1584-124delinsGT
NM_004836.5:c.2037-125_2037-124delinsGT NP_004827.4:n.2037-125_2037-124delinsGT
NM_004836.6:c.2037-125_2037-124delinsGT NP_004827.4:n.2037-125_2037-124delinsGT
NR_110236.1:n.1707_1708delinsAC
XM_005264649.3:c.1353-125_1353-124delinsGT XP_005264706.1:n.1353-125_1353-124delinsGT
XR_939749.1:n.2316-125_2316-124delinsGT
XM_017005376.2:c.1353-125_1353-124delinsGT XP_016860865.1:n.1353-125_1353-124delinsGT
NM_004836.7:c.2037-125_2037-124delinsGT MANE Select NP_004827.4:n.2037-125_2037-124delinsGT
NM_001313915.2:c.1584-125_1584-124delinsGT NP_001300844.1:n.1584-125_1584-124delinsGT