Canonical Allele Identifier: CA1268208159

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575231_88575232delinsAT , CM000664.2:g.88575231_88575232delinsAT	GRCh38
NC_000002.11:g.88874749_88874750delinsAT , CM000664.1:g.88874749_88874750delinsAT	GRCh37
NC_000002.10:g.88655864_88655865delinsAT	NCBI36
NG_016424.1:g.57345_57346delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2079_2080delinsAT
ENST00000682276.1:n.1696_1697delinsAT
ENST00000682892.1:c.1798_1799delinsAT	ENSP00000507214.1:p.Ile600=
ENST00000682952.1:n.1890_1891delinsAT
ENST00000684455.1:c.1464_1465delinsAT
ENST00000684642.1:c.1648_1649delinsAT	ENSP00000507355.1:p.Ile550=
ENST00000684740.1:n.2429_2430delinsAT
ENST00000303236.9:c.2251_2252delinsAT MANE Select	ENSP00000307235.3:p.Ile751=
ENST00000652099.1:c.2445_2446delinsAT
ENST00000652736.1:n.2127_2128delinsAT
ENST00000303236.7:c.2251_2252delinsAT	ENSP00000307235.3:p.Ile751=
ENST00000415570.1:c.1888_1889delinsAT	ENSP00000412076.1:p.Ile630=
ENST00000419748.5:c.1798_1799delinsAT	ENSP00000408325.1:p.Ile600=
ENST00000470706.1:n.48+129_48+130delinsAT
NM_001313915.1:c.1798_1799delinsAT	NP_001300844.1:p.Ile600=
NM_004836.5:c.2251_2252delinsAT	NP_004827.4:p.Ile751=
NM_004836.6:c.2251_2252delinsAT	NP_004827.4:p.Ile751=
NR_110236.1:n.1368_1369delinsAT
XM_005264649.3:c.1567_1568delinsAT	XP_005264706.1:p.Ile523=
XM_017005376.2:c.1567_1568delinsAT	XP_016860865.1:p.Ile523=
NM_004836.7:c.2251_2252delinsAT MANE Select	NP_004827.4:p.Ile751=
NM_001313915.2:c.1798_1799delinsAT	NP_001300844.1:p.Ile600=