Canonical Allele Identifier: CA2660011030

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575120-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575123del , CM000664.2:g.88575123del	GRCh38
NC_000002.11:g.88874641del , CM000664.1:g.88874641del	GRCh37
NC_000002.10:g.88655756del	NCBI36
NG_016424.1:g.57456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2190del
ENST00000682276.1:n.1807del
ENST00000682892.1:c.1909del	ENSP00000507214.1:p.Cys637ValfsTer9
ENST00000682952.1:n.2001del
ENST00000684455.1:c.1575del
ENST00000684642.1:c.1759del	ENSP00000507355.1:p.Cys587ValfsTer9
ENST00000684740.1:n.2540del
ENST00000303236.9:c.2362del MANE Select	ENSP00000307235.3:p.Cys788ValfsTer9
ENST00000652099.1:c.2556del
ENST00000652736.1:n.2238del
ENST00000303236.7:c.2362del	ENSP00000307235.3:p.Cys788ValfsTer9
ENST00000415570.1:c.1999del	ENSP00000412076.1:p.Cys667ValfsTer9
ENST00000419748.5:c.1909del	ENSP00000408325.1:p.Cys637ValfsTer9
ENST00000470706.1:n.49-44del
NM_001313915.1:c.1909del	NP_001300844.1:p.Cys637ValfsTer9
NM_004836.5:c.2362del	NP_004827.4:p.Cys788ValfsTer9
NM_004836.6:c.2362del	NP_004827.4:p.Cys788ValfsTer9
NR_110236.1:n.1260del
XM_005264649.3:c.1678del	XP_005264706.1:p.Cys560ValfsTer9
XM_017005376.2:c.1678del	XP_016860865.1:p.Cys560ValfsTer9
NM_004836.7:c.2362del MANE Select	NP_004827.4:p.Cys788ValfsTer9
NM_001313915.2:c.1909del	NP_001300844.1:p.Cys637ValfsTer9