Canonical Allele Identifier: CA2660014812

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88625009-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625013del , CM000664.2:g.88625013del	GRCh38
NC_000002.11:g.88924531del , CM000664.1:g.88924531del	GRCh37
NC_000002.10:g.88705646del	NCBI36
NG_016424.1:g.7567del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11157del	ENSP00000507214.1:n.-145-11157del
ENST00000303236.9:c.308+1957del MANE Select	ENSP00000307235.3:n.308+1957del
ENST00000652099.1:c.306+1957del
ENST00000652423.1:c.184+1957del	ENSP00000498948.1:n.184+1957del
ENST00000303236.7:c.308+1957del	ENSP00000307235.3:n.308+1957del
NM_004836.5:c.308+1957del	NP_004827.4:n.308+1957del
NM_004836.6:c.308+1957del	NP_004827.4:n.308+1957del
XR_939749.1:n.517+1957del
XM_017005376.2:c.-573+1957del	XP_016860865.1:n.-573+1957del
NM_004836.7:c.308+1957del MANE Select	NP_004827.4:n.308+1957del