Canonical Allele Identifier: CA2573135922

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1389898
• ClinVar RCV Id: RCV001917468
• dbSNP Id: rs2104411402

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575111_88575113del , CM000664.2:g.88575111_88575113del	GRCh38
NC_000002.11:g.88874629_88874631del , CM000664.1:g.88874629_88874631del	GRCh37
NC_000002.10:g.88655744_88655746del	NCBI36
NG_016424.1:g.57464_57466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2198_2200del
ENST00000682276.1:n.1815_1817del
ENST00000682892.1:c.1917_1919del	ENSP00000507214.1:p.Glu640del
ENST00000682952.1:n.2009_2011del
ENST00000684455.1:c.1583_1585del
ENST00000684642.1:c.1767_1769del	ENSP00000507355.1:p.Glu590del
ENST00000684740.1:n.2548_2550del
ENST00000303236.9:c.2370_2372del MANE Select	ENSP00000307235.3:p.Glu791del
ENST00000652099.1:c.2564_2566del
ENST00000652736.1:n.2246_2248del
ENST00000303236.7:c.2370_2372del	ENSP00000307235.3:p.Glu791del
ENST00000415570.1:c.2007_2009del	ENSP00000412076.1:p.Glu670del
ENST00000419748.5:c.1917_1919del	ENSP00000408325.1:p.Glu640del
ENST00000470706.1:n.49-36_49-34del
NM_001313915.1:c.1917_1919del	NP_001300844.1:p.Glu640del
NM_004836.5:c.2370_2372del	NP_004827.4:p.Glu791del
NM_004836.6:c.2370_2372del	NP_004827.4:p.Glu791del
NR_110236.1:n.1248_1250del
XM_005264649.3:c.1686_1688del	XP_005264706.1:p.Glu563del
XM_017005376.2:c.1686_1688del	XP_016860865.1:p.Glu563del
NM_004836.7:c.2370_2372del MANE Select	NP_004827.4:p.Glu791del
NM_001313915.2:c.1917_1919del	NP_001300844.1:p.Glu640del