Canonical Allele Identifier: CA1268208315

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575654_88575655delinsCT , CM000664.2:g.88575654_88575655delinsCT	GRCh38
NC_000002.11:g.88875172_88875173delinsCT , CM000664.1:g.88875172_88875173delinsCT	GRCh37
NC_000002.10:g.88656287_88656288delinsCT	NCBI36
NG_016424.1:g.56922_56923delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-209_1865-208delinsAG
ENST00000682276.1:n.1482-209_1482-208delinsAG
ENST00000682892.1:c.1584-209_1584-208delinsAG	ENSP00000507214.1:n.1584-209_1584-208delinsAG
ENST00000682952.1:n.1676-209_1676-208delinsAG
ENST00000684455.1:c.1250-209_1250-208delinsAG
ENST00000684642.1:c.1434-209_1434-208delinsAG	ENSP00000507355.1:n.1434-209_1434-208delinsAG
ENST00000684740.1:n.2215-209_2215-208delinsAG
ENST00000303236.9:c.2037-209_2037-208delinsAG MANE Select	ENSP00000307235.3:n.2037-209_2037-208delinsAG
ENST00000652099.1:c.2231-209_2231-208delinsAG
ENST00000652736.1:n.1913-209_1913-208delinsAG
ENST00000303236.7:c.2037-209_2037-208delinsAG	ENSP00000307235.3:n.2037-209_2037-208delinsAG
ENST00000415570.1:c.1674-209_1674-208delinsAG	ENSP00000412076.1:n.1674-209_1674-208delinsAG
ENST00000419748.5:c.1584-209_1584-208delinsAG	ENSP00000408325.1:n.1584-209_1584-208delinsAG
ENST00000478003.1:n.603-209_603-208delinsAG
NM_001313915.1:c.1584-209_1584-208delinsAG	NP_001300844.1:n.1584-209_1584-208delinsAG
NM_004836.5:c.2037-209_2037-208delinsAG	NP_004827.4:n.2037-209_2037-208delinsAG
NM_004836.6:c.2037-209_2037-208delinsAG	NP_004827.4:n.2037-209_2037-208delinsAG
XM_005264649.3:c.1353-209_1353-208delinsAG	XP_005264706.1:n.1353-209_1353-208delinsAG
XR_939749.1:n.2316-209_2316-208delinsAG
XM_017005376.2:c.1353-209_1353-208delinsAG	XP_016860865.1:n.1353-209_1353-208delinsAG
NM_004836.7:c.2037-209_2037-208delinsAG MANE Select	NP_004827.4:n.2037-209_2037-208delinsAG
NM_001313915.2:c.1584-209_1584-208delinsAG	NP_001300844.1:n.1584-209_1584-208delinsAG