Canonical Allele Identifier: CA2660011032

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575223-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575225_88575226del , CM000664.2:g.88575225_88575226del	GRCh38
NC_000002.11:g.88874743_88874744del , CM000664.1:g.88874743_88874744del	GRCh37
NC_000002.10:g.88655858_88655859del	NCBI36
NG_016424.1:g.57352_57353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2086_2087del
ENST00000682276.1:n.1703_1704del
ENST00000682892.1:c.1805_1806del	ENSP00000507214.1:p.Glu602ValfsTer17
ENST00000682952.1:n.1897_1898del
ENST00000684455.1:c.1471_1472del
ENST00000684642.1:c.1655_1656del	ENSP00000507355.1:p.Glu552ValfsTer17
ENST00000684740.1:n.2436_2437del
ENST00000303236.9:c.2258_2259del MANE Select	ENSP00000307235.3:p.Glu753ValfsTer17
ENST00000652099.1:c.2452_2453del
ENST00000652736.1:n.2134_2135del
ENST00000303236.7:c.2258_2259del	ENSP00000307235.3:p.Glu753ValfsTer17
ENST00000415570.1:c.1895_1896del	ENSP00000412076.1:p.Glu632ValfsTer17
ENST00000419748.5:c.1805_1806del	ENSP00000408325.1:p.Glu602ValfsTer17
ENST00000470706.1:n.48+136_48+137del
NM_001313915.1:c.1805_1806del	NP_001300844.1:p.Glu602ValfsTer17
NM_004836.5:c.2258_2259del	NP_004827.4:p.Glu753ValfsTer17
NM_004836.6:c.2258_2259del	NP_004827.4:p.Glu753ValfsTer17
NR_110236.1:n.1362_1363del
XM_005264649.3:c.1574_1575del	XP_005264706.1:p.Glu525ValfsTer17
XM_017005376.2:c.1574_1575del	XP_016860865.1:p.Glu525ValfsTer17
NM_004836.7:c.2258_2259del MANE Select	NP_004827.4:p.Glu753ValfsTer17
NM_001313915.2:c.1805_1806del	NP_001300844.1:p.Glu602ValfsTer17