Canonical Allele Identifier: CA1268211544
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583325_88583327delinsCTA , CM000664.2:g.88583325_88583327delinsCTA GRCh38
NC_000002.11:g.88882843_88882845delinsCTA , CM000664.1:g.88882843_88882845delinsCTA GRCh37
NC_000002.10:g.88663958_88663960delinsCTA NCBI36
NG_016424.1:g.49250_49252delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1208+103_1208+105delinsTAG
ENST00000682892.1:c.1310+103_1310+105delinsTAG ENSP00000507214.1:n.1310+103_1310+105delinsTAG
ENST00000682952.1:n.1402+103_1402+105delinsTAG
ENST00000684455.1:c.976+103_976+105delinsTAG
ENST00000684642.1:c.1160+103_1160+105delinsTAG ENSP00000507355.1:n.1160+103_1160+105delinsTAG
ENST00000303236.9:c.1763+103_1763+105delinsTAG MANE Select ENSP00000307235.3:n.1763+103_1763+105delinsTAG
ENST00000652099.1:c.1957+103_1957+105delinsTAG
ENST00000652736.1:n.1639+103_1639+105delinsTAG
ENST00000303236.7:c.1763+103_1763+105delinsTAG ENSP00000307235.3:n.1763+103_1763+105delinsTAG
ENST00000415570.1:c.1400+103_1400+105delinsTAG ENSP00000412076.1:n.1400+103_1400+105delinsTAG
ENST00000419748.5:c.1310+103_1310+105delinsTAG ENSP00000408325.1:n.1310+103_1310+105delinsTAG
NM_001313915.1:c.1310+103_1310+105delinsTAG NP_001300844.1:n.1310+103_1310+105delinsTAG
NM_004836.5:c.1763+103_1763+105delinsTAG NP_004827.4:n.1763+103_1763+105delinsTAG
NM_004836.6:c.1763+103_1763+105delinsTAG NP_004827.4:n.1763+103_1763+105delinsTAG
XM_005264649.3:c.1079+103_1079+105delinsTAG XP_005264706.1:n.1079+103_1079+105delinsTAG
XR_939749.1:n.1972+103_1972+105delinsTAG
XM_017005376.2:c.1079+103_1079+105delinsTAG XP_016860865.1:n.1079+103_1079+105delinsTAG
NM_004836.7:c.1763+103_1763+105delinsTAG MANE Select NP_004827.4:n.1763+103_1763+105delinsTAG
NM_001313915.2:c.1310+103_1310+105delinsTAG NP_001300844.1:n.1310+103_1310+105delinsTAG