Canonical Allele Identifier: CA1268208087

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575020_88575023delinsCTCT , CM000664.2:g.88575020_88575023delinsCTCT	GRCh38
NC_000002.11:g.88874538_88874541delinsCTCT , CM000664.1:g.88874538_88874541delinsCTCT	GRCh37
NC_000002.10:g.88655653_88655656delinsCTCT	NCBI36
NG_016424.1:g.57554_57557delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2288_2291delinsAGAG
ENST00000682103.1:c.1_4delinsAGAG
ENST00000682276.1:n.1905_1908delinsAGAG
ENST00000682892.1:c.2007_2010delinsAGAG	ENSP00000507214.1:p.Glu669=
ENST00000682952.1:n.2099_2102delinsAGAG
ENST00000684455.1:c.1673_1676delinsAGAG
ENST00000684642.1:c.1857_1860delinsAGAG	ENSP00000507355.1:p.Glu619=
ENST00000684740.1:n.2638_2641delinsAGAG
ENST00000303236.9:c.2460_2463delinsAGAG MANE Select	ENSP00000307235.3:p.Glu820=
ENST00000652099.1:c.2654_2657delinsAGAG
ENST00000652736.1:n.2336_2339delinsAGAG
ENST00000303236.7:c.2460_2463delinsAGAG	ENSP00000307235.3:p.Glu820=
ENST00000415570.1:c.2097_2100delinsAGAG	ENSP00000412076.1:p.Glu699=
ENST00000419748.5:c.2007_2010delinsAGAG	ENSP00000408325.1:p.Glu669=
ENST00000470706.1:n.103_106delinsAGAG
NM_001313915.1:c.2007_2010delinsAGAG	NP_001300844.1:p.Glu669=
NM_004836.5:c.2460_2463delinsAGAG	NP_004827.4:p.Glu820=
NM_004836.6:c.2460_2463delinsAGAG	NP_004827.4:p.Glu820=
NR_110236.1:n.1157_1160delinsCTCT
XM_005264649.3:c.1776_1779delinsAGAG	XP_005264706.1:p.Glu592=
XM_017005376.2:c.1776_1779delinsAGAG	XP_016860865.1:p.Glu592=
NM_004836.7:c.2460_2463delinsAGAG MANE Select	NP_004827.4:p.Glu820=
NM_001313915.2:c.2007_2010delinsAGAG	NP_001300844.1:p.Glu669=