Canonical Allele Identifier: CA1268208143

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674423906

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575188_88575194del , CM000664.2:g.88575188_88575194del	GRCh38
NC_000002.11:g.88874706_88874712del , CM000664.1:g.88874706_88874712del	GRCh37
NC_000002.10:g.88655821_88655827del	NCBI36
NG_016424.1:g.57384_57390del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2118_2124del
ENST00000682276.1:n.1735_1741del
ENST00000682892.1:c.1837_1843del	ENSP00000507214.1:p.Ser613LeufsTer?
ENST00000682952.1:n.1929_1935del
ENST00000684455.1:c.1503_1509del
ENST00000684642.1:c.1687_1693del	ENSP00000507355.1:p.Ser563LeufsTer?
ENST00000684740.1:n.2468_2474del
ENST00000303236.9:c.2290_2296del MANE Select	ENSP00000307235.3:p.Ser764LeufsTer?
ENST00000652099.1:c.2484_2490del
ENST00000652736.1:n.2166_2172del
ENST00000303236.7:c.2290_2296del	ENSP00000307235.3:p.Ser764LeufsTer?
ENST00000415570.1:c.1927_1933del	ENSP00000412076.1:p.Ser643LeufsTer?
ENST00000419748.5:c.1837_1843del	ENSP00000408325.1:p.Ser613LeufsTer?
ENST00000470706.1:n.49-116_49-110del
NM_001313915.1:c.1837_1843del	NP_001300844.1:p.Ser613LeufsTer?
NM_004836.5:c.2290_2296del	NP_004827.4:p.Ser764LeufsTer?
NM_004836.6:c.2290_2296del	NP_004827.4:p.Ser764LeufsTer?
NR_110236.1:n.1325_1331del
XM_005264649.3:c.1606_1612del	XP_005264706.1:p.Ser536LeufsTer?
XM_017005376.2:c.1606_1612del	XP_016860865.1:p.Ser536LeufsTer?
NM_004836.7:c.2290_2296del MANE Select	NP_004827.4:p.Ser764LeufsTer?
NM_001313915.2:c.1837_1843del	NP_001300844.1:p.Ser613LeufsTer?