Canonical Allele Identifier: CA1268208142

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575186_88575193delinsAGGCAACT , CM000664.2:g.88575186_88575193delinsAGGCAACT	GRCh38
NC_000002.11:g.88874704_88874711delinsAGGCAACT , CM000664.1:g.88874704_88874711delinsAGGCAACT	GRCh37
NC_000002.10:g.88655819_88655826delinsAGGCAACT	NCBI36
NG_016424.1:g.57384_57391delinsAGTTGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2118_2125delinsAGTTGCCT
ENST00000682276.1:n.1735_1742delinsAGTTGCCT
ENST00000682892.1:c.1837_1844delinsAGTTGCCT	ENSP00000507214.1:p.Ser613=
ENST00000682952.1:n.1929_1936delinsAGTTGCCT
ENST00000684455.1:c.1503_1510delinsAGTTGCCT
ENST00000684642.1:c.1687_1694delinsAGTTGCCT	ENSP00000507355.1:p.Ser563=
ENST00000684740.1:n.2468_2475delinsAGTTGCCT
ENST00000303236.9:c.2290_2297delinsAGTTGCCT MANE Select	ENSP00000307235.3:p.Ser764=
ENST00000652099.1:c.2484_2491delinsAGTTGCCT
ENST00000652736.1:n.2166_2173delinsAGTTGCCT
ENST00000303236.7:c.2290_2297delinsAGTTGCCT	ENSP00000307235.3:p.Ser764=
ENST00000415570.1:c.1927_1934delinsAGTTGCCT	ENSP00000412076.1:p.Ser643=
ENST00000419748.5:c.1837_1844delinsAGTTGCCT	ENSP00000408325.1:p.Ser613=
ENST00000470706.1:n.49-116_49-109delinsAGTTGCCT
NM_001313915.1:c.1837_1844delinsAGTTGCCT	NP_001300844.1:p.Ser613=
NM_004836.5:c.2290_2297delinsAGTTGCCT	NP_004827.4:p.Ser764=
NM_004836.6:c.2290_2297delinsAGTTGCCT	NP_004827.4:p.Ser764=
NR_110236.1:n.1323_1330delinsAGGCAACT
XM_005264649.3:c.1606_1613delinsAGTTGCCT	XP_005264706.1:p.Ser536=
XM_017005376.2:c.1606_1613delinsAGTTGCCT	XP_016860865.1:p.Ser536=
NM_004836.7:c.2290_2297delinsAGTTGCCT MANE Select	NP_004827.4:p.Ser764=
NM_001313915.2:c.1837_1844delinsAGTTGCCT	NP_001300844.1:p.Ser613=