Canonical Allele Identifier: CA2840048015

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575434del , CM000664.2:g.88575434del	GRCh38
NC_000002.11:g.88874952del , CM000664.1:g.88874952del	GRCh37
NC_000002.10:g.88656067del	NCBI36
NG_016424.1:g.57143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1877del
ENST00000682276.1:n.1494del
ENST00000682892.1:c.1596del	ENSP00000507214.1:p.Leu533SerfsTer29
ENST00000682952.1:n.1688del
ENST00000684455.1:c.1262del
ENST00000684642.1:c.1446del	ENSP00000507355.1:p.Leu483SerfsTer29
ENST00000684740.1:n.2227del
ENST00000303236.9:c.2049del MANE Select	ENSP00000307235.3:p.Leu684SerfsTer29
ENST00000652099.1:c.2243del
ENST00000652736.1:n.1925del
ENST00000303236.7:c.2049del	ENSP00000307235.3:p.Leu684SerfsTer29
ENST00000415570.1:c.1686del	ENSP00000412076.1:p.Leu563SerfsTer29
ENST00000419748.5:c.1596del	ENSP00000408325.1:p.Leu533SerfsTer29
ENST00000478003.1:n.615del
NM_001313915.1:c.1596del	NP_001300844.1:p.Leu533SerfsTer29
NM_004836.5:c.2049del	NP_004827.4:p.Leu684SerfsTer29
NM_004836.6:c.2049del	NP_004827.4:p.Leu684SerfsTer29
NR_110236.1:n.1571del
XM_005264649.3:c.1365del	XP_005264706.1:p.Leu456SerfsTer29
XR_939749.1:n.2328del
XM_017005376.2:c.1365del	XP_016860865.1:p.Leu456SerfsTer29
NM_004836.7:c.2049del MANE Select	NP_004827.4:p.Leu684SerfsTer29
NM_001313915.2:c.1596del	NP_001300844.1:p.Leu533SerfsTer29