Canonical Allele Identifier: CA2518581357

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575230_88575231insGC , CM000664.2:g.88575230_88575231insGC	GRCh38
NC_000002.11:g.88874748_88874749insGC , CM000664.1:g.88874748_88874749insGC	GRCh37
NC_000002.10:g.88655863_88655864insGC	NCBI36
NG_016424.1:g.57346_57347insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2080_2081insGC
ENST00000682276.1:n.1697_1698insGC
ENST00000682892.1:c.1799_1800insGC	ENSP00000507214.1:p.Ile600MetfsTer?
ENST00000682952.1:n.1891_1892insGC
ENST00000684455.1:c.1465_1466insGC
ENST00000684642.1:c.1649_1650insGC	ENSP00000507355.1:p.Ile550MetfsTer?
ENST00000684740.1:n.2430_2431insGC
ENST00000303236.9:c.2252_2253insGC MANE Select	ENSP00000307235.3:p.Ile751MetfsTer?
ENST00000652099.1:c.2446_2447insGC
ENST00000652736.1:n.2128_2129insGC
ENST00000303236.7:c.2252_2253insGC	ENSP00000307235.3:p.Ile751MetfsTer?
ENST00000415570.1:c.1889_1890insGC	ENSP00000412076.1:p.Ile630MetfsTer?
ENST00000419748.5:c.1799_1800insGC	ENSP00000408325.1:p.Ile600MetfsTer?
ENST00000470706.1:n.48+130_48+131insGC
NM_001313915.1:c.1799_1800insGC	NP_001300844.1:p.Ile600MetfsTer?
NM_004836.5:c.2252_2253insGC	NP_004827.4:p.Ile751MetfsTer?
NM_004836.6:c.2252_2253insGC	NP_004827.4:p.Ile751MetfsTer?
NR_110236.1:n.1367_1368insGC
XM_005264649.3:c.1568_1569insGC	XP_005264706.1:p.Ile523MetfsTer?
XM_017005376.2:c.1568_1569insGC	XP_016860865.1:p.Ile523MetfsTer?
NM_004836.7:c.2252_2253insGC MANE Select	NP_004827.4:p.Ile751MetfsTer?
NM_001313915.2:c.1799_1800insGC	NP_001300844.1:p.Ile600MetfsTer?