Canonical Allele Identifier: CA1268208082

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575008_88575009delinsAT , CM000664.2:g.88575008_88575009delinsAT	GRCh38
NC_000002.11:g.88874526_88874527delinsAT , CM000664.1:g.88874526_88874527delinsAT	GRCh37
NC_000002.10:g.88655641_88655642delinsAT	NCBI36
NG_016424.1:g.57568_57569delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2302_2303delinsAT
ENST00000682103.1:c.15_16delinsAT
ENST00000682276.1:n.1919_1920delinsAT
ENST00000682892.1:c.2021_2022delinsAT	ENSP00000507214.1:p.Asn674=
ENST00000682952.1:n.2113_2114delinsAT
ENST00000684455.1:c.1687_1688delinsAT
ENST00000684642.1:c.1871_1872delinsAT	ENSP00000507355.1:p.Asn624=
ENST00000684740.1:n.2652_2653delinsAT
ENST00000303236.9:c.2474_2475delinsAT MANE Select	ENSP00000307235.3:p.Asn825=
ENST00000652099.1:c.2668_2669delinsAT
ENST00000652736.1:n.2350_2351delinsAT
ENST00000303236.7:c.2474_2475delinsAT	ENSP00000307235.3:p.Asn825=
ENST00000415570.1:c.2111_2112delinsAT	ENSP00000412076.1:p.Asn704=
ENST00000419748.5:c.2021_2022delinsAT	ENSP00000408325.1:p.Asn674=
ENST00000470706.1:n.117_118delinsAT
NM_001313915.1:c.2021_2022delinsAT	NP_001300844.1:p.Asn674=
NM_004836.5:c.2474_2475delinsAT	NP_004827.4:p.Asn825=
NM_004836.6:c.2474_2475delinsAT	NP_004827.4:p.Asn825=
NR_110236.1:n.1145_1146delinsAT
XM_005264649.3:c.1790_1791delinsAT	XP_005264706.1:p.Asn597=
XM_017005376.2:c.1790_1791delinsAT	XP_016860865.1:p.Asn597=
NM_004836.7:c.2474_2475delinsAT MANE Select	NP_004827.4:p.Asn825=
NM_001313915.2:c.2021_2022delinsAT	NP_001300844.1:p.Asn674=