Canonical Allele Identifier: CA1033365769

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674418042
• gnomAD v3: 2-88575008-AT-A
• gnomAD v4: 2-88575008-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575010del , CM000664.2:g.88575010del	GRCh38
NC_000002.11:g.88874528del , CM000664.1:g.88874528del	GRCh37
NC_000002.10:g.88655643del	NCBI36
NG_016424.1:g.57568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2302del
ENST00000682103.1:c.15del
ENST00000682276.1:n.1919del
ENST00000682892.1:c.2021del	ENSP00000507214.1:p.Asn674IlefsTer13
ENST00000682952.1:n.2113del
ENST00000684455.1:c.1687del
ENST00000684642.1:c.1871del	ENSP00000507355.1:p.Asn624IlefsTer13
ENST00000684740.1:n.2652del
ENST00000303236.9:c.2474del MANE Select	ENSP00000307235.3:p.Asn825IlefsTer13
ENST00000652099.1:c.2668del
ENST00000652736.1:n.2350del
ENST00000303236.7:c.2474del	ENSP00000307235.3:p.Asn825IlefsTer13
ENST00000415570.1:c.2111del	ENSP00000412076.1:p.Asn704IlefsTer13
ENST00000419748.5:c.2021del	ENSP00000408325.1:p.Asn674IlefsTer13
ENST00000470706.1:n.117del
NM_001313915.1:c.2021del	NP_001300844.1:p.Asn674IlefsTer13
NM_004836.5:c.2474del	NP_004827.4:p.Asn825IlefsTer13
NM_004836.6:c.2474del	NP_004827.4:p.Asn825IlefsTer13
NR_110236.1:n.1147del
XM_005264649.3:c.1790del	XP_005264706.1:p.Asn597IlefsTer13
XM_017005376.2:c.1790del	XP_016860865.1:p.Asn597IlefsTer13
NM_004836.7:c.2474del MANE Select	NP_004827.4:p.Asn825IlefsTer13
NM_001313915.2:c.2021del	NP_001300844.1:p.Asn674IlefsTer13