Canonical Allele Identifier: CA2750855583
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575581_88575582insCACCC , CM000664.2:g.88575581_88575582insCACCC GRCh38
NC_000002.11:g.88875099_88875100insCACCC , CM000664.1:g.88875099_88875100insCACCC GRCh37
NC_000002.10:g.88656214_88656215insCACCC NCBI36
NG_016424.1:g.56995_56996insGGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-136_1865-135insGGGTG
ENST00000682276.1:n.1482-136_1482-135insGGGTG
ENST00000682892.1:c.1584-136_1584-135insGGGTG ENSP00000507214.1:n.1584-136_1584-135insGGGTG
ENST00000682952.1:n.1676-136_1676-135insGGGTG
ENST00000684455.1:c.1250-136_1250-135insGGGTG
ENST00000684642.1:c.1434-136_1434-135insGGGTG ENSP00000507355.1:n.1434-136_1434-135insGGGTG
ENST00000684740.1:n.2215-136_2215-135insGGGTG
ENST00000303236.9:c.2037-136_2037-135insGGGTG MANE Select ENSP00000307235.3:n.2037-136_2037-135insGGGTG
ENST00000652099.1:c.2231-136_2231-135insGGGTG
ENST00000652736.1:n.1913-136_1913-135insGGGTG
ENST00000303236.7:c.2037-136_2037-135insGGGTG ENSP00000307235.3:n.2037-136_2037-135insGGGTG
ENST00000415570.1:c.1674-136_1674-135insGGGTG ENSP00000412076.1:n.1674-136_1674-135insGGGTG
ENST00000419748.5:c.1584-136_1584-135insGGGTG ENSP00000408325.1:n.1584-136_1584-135insGGGTG
ENST00000478003.1:n.603-136_603-135insGGGTG
NM_001313915.1:c.1584-136_1584-135insGGGTG NP_001300844.1:n.1584-136_1584-135insGGGTG
NM_004836.5:c.2037-136_2037-135insGGGTG NP_004827.4:n.2037-136_2037-135insGGGTG
NM_004836.6:c.2037-136_2037-135insGGGTG NP_004827.4:n.2037-136_2037-135insGGGTG
NR_110236.1:n.1718_1719insCACCC
XM_005264649.3:c.1353-136_1353-135insGGGTG XP_005264706.1:n.1353-136_1353-135insGGGTG
XR_939749.1:n.2316-136_2316-135insGGGTG
XM_017005376.2:c.1353-136_1353-135insGGGTG XP_016860865.1:n.1353-136_1353-135insGGGTG
NM_004836.7:c.2037-136_2037-135insGGGTG MANE Select NP_004827.4:n.2037-136_2037-135insGGGTG
NM_001313915.2:c.1584-136_1584-135insGGGTG NP_001300844.1:n.1584-136_1584-135insGGGTG