Canonical Allele Identifier: CA2660012637

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583356-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583363_88583365dup , CM000664.2:g.88583363_88583365dup	GRCh38
NC_000002.11:g.88882881_88882883dup , CM000664.1:g.88882881_88882883dup	GRCh37
NC_000002.10:g.88663996_88663998dup	NCBI36
NG_016424.1:g.49218_49220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+71_1208+73dup
ENST00000682892.1:c.1310+71_1310+73dup	ENSP00000507214.1:n.1310+71_1310+73dup
ENST00000682952.1:n.1402+71_1402+73dup
ENST00000684455.1:c.976+71_976+73dup
ENST00000684642.1:c.1160+71_1160+73dup	ENSP00000507355.1:n.1160+71_1160+73dup
ENST00000303236.9:c.1763+71_1763+73dup MANE Select	ENSP00000307235.3:n.1763+71_1763+73dup
ENST00000652099.1:c.1957+71_1957+73dup
ENST00000652736.1:n.1639+71_1639+73dup
ENST00000303236.7:c.1763+71_1763+73dup	ENSP00000307235.3:n.1763+71_1763+73dup
ENST00000415570.1:c.1400+71_1400+73dup	ENSP00000412076.1:n.1400+71_1400+73dup
ENST00000419748.5:c.1310+71_1310+73dup	ENSP00000408325.1:n.1310+71_1310+73dup
NM_001313915.1:c.1310+71_1310+73dup	NP_001300844.1:n.1310+71_1310+73dup
NM_004836.5:c.1763+71_1763+73dup	NP_004827.4:n.1763+71_1763+73dup
NM_004836.6:c.1763+71_1763+73dup	NP_004827.4:n.1763+71_1763+73dup
XM_005264649.3:c.1079+71_1079+73dup	XP_005264706.1:n.1079+71_1079+73dup
XR_939749.1:n.1972+71_1972+73dup
XM_017005376.2:c.1079+71_1079+73dup	XP_016860865.1:n.1079+71_1079+73dup
NM_004836.7:c.1763+71_1763+73dup MANE Select	NP_004827.4:n.1763+71_1763+73dup
NM_001313915.2:c.1310+71_1310+73dup	NP_001300844.1:n.1310+71_1310+73dup