Canonical Allele Identifier: CA2660012636

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583356-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583364_88583365dup , CM000664.2:g.88583364_88583365dup	GRCh38
NC_000002.11:g.88882882_88882883dup , CM000664.1:g.88882882_88882883dup	GRCh37
NC_000002.10:g.88663997_88663998dup	NCBI36
NG_016424.1:g.49219_49220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+72_1208+73dup
ENST00000682892.1:c.1310+72_1310+73dup	ENSP00000507214.1:n.1310+72_1310+73dup
ENST00000682952.1:n.1402+72_1402+73dup
ENST00000684455.1:c.976+72_976+73dup
ENST00000684642.1:c.1160+72_1160+73dup	ENSP00000507355.1:n.1160+72_1160+73dup
ENST00000303236.9:c.1763+72_1763+73dup MANE Select	ENSP00000307235.3:n.1763+72_1763+73dup
ENST00000652099.1:c.1957+72_1957+73dup
ENST00000652736.1:n.1639+72_1639+73dup
ENST00000303236.7:c.1763+72_1763+73dup	ENSP00000307235.3:n.1763+72_1763+73dup
ENST00000415570.1:c.1400+72_1400+73dup	ENSP00000412076.1:n.1400+72_1400+73dup
ENST00000419748.5:c.1310+72_1310+73dup	ENSP00000408325.1:n.1310+72_1310+73dup
NM_001313915.1:c.1310+72_1310+73dup	NP_001300844.1:n.1310+72_1310+73dup
NM_004836.5:c.1763+72_1763+73dup	NP_004827.4:n.1763+72_1763+73dup
NM_004836.6:c.1763+72_1763+73dup	NP_004827.4:n.1763+72_1763+73dup
XM_005264649.3:c.1079+72_1079+73dup	XP_005264706.1:n.1079+72_1079+73dup
XR_939749.1:n.1972+72_1972+73dup
XM_017005376.2:c.1079+72_1079+73dup	XP_016860865.1:n.1079+72_1079+73dup
NM_004836.7:c.1763+72_1763+73dup MANE Select	NP_004827.4:n.1763+72_1763+73dup
NM_001313915.2:c.1310+72_1310+73dup	NP_001300844.1:n.1310+72_1310+73dup