Canonical Allele Identifier: CA2660011035

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575413-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575414_88575415dup , CM000664.2:g.88575414_88575415dup	GRCh38
NC_000002.11:g.88874932_88874933dup , CM000664.1:g.88874932_88874933dup	GRCh37
NC_000002.10:g.88656047_88656048dup	NCBI36
NG_016424.1:g.57162_57163dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1896_1897dup
ENST00000682276.1:n.1513_1514dup
ENST00000682892.1:c.1615_1616dup	ENSP00000507214.1:p.Met539IlefsTer24
ENST00000682952.1:n.1707_1708dup
ENST00000684455.1:c.1281_1282dup
ENST00000684642.1:c.1465_1466dup	ENSP00000507355.1:p.Met489IlefsTer24
ENST00000684740.1:n.2246_2247dup
ENST00000303236.9:c.2068_2069dup MANE Select	ENSP00000307235.3:p.Met690IlefsTer24
ENST00000652099.1:c.2262_2263dup
ENST00000652736.1:n.1944_1945dup
ENST00000303236.7:c.2068_2069dup	ENSP00000307235.3:p.Met690IlefsTer24
ENST00000415570.1:c.1705_1706dup	ENSP00000412076.1:p.Met569IlefsTer24
ENST00000419748.5:c.1615_1616dup	ENSP00000408325.1:p.Met539IlefsTer24
ENST00000478003.1:n.634_635dup
NM_001313915.1:c.1615_1616dup	NP_001300844.1:p.Met539IlefsTer24
NM_004836.5:c.2068_2069dup	NP_004827.4:p.Met690IlefsTer24
NM_004836.6:c.2068_2069dup	NP_004827.4:p.Met690IlefsTer24
NR_110236.1:n.1551_1552dup
XM_005264649.3:c.1384_1385dup	XP_005264706.1:p.Met462IlefsTer24
XR_939749.1:n.2347_2348dup
XM_017005376.2:c.1384_1385dup	XP_016860865.1:p.Met462IlefsTer24
NM_004836.7:c.2068_2069dup MANE Select	NP_004827.4:p.Met690IlefsTer24
NM_001313915.2:c.1615_1616dup	NP_001300844.1:p.Met539IlefsTer24