Canonical Allele Identifier: CA2568218504

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625151del , CM000664.2:g.88625151del	GRCh38
NC_000002.11:g.88924669del , CM000664.1:g.88924669del	GRCh37
NC_000002.10:g.88705784del	NCBI36
NG_016424.1:g.7427del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11297del	ENSP00000507214.1:n.-145-11297del
ENST00000303236.9:c.308+1817del MANE Select	ENSP00000307235.3:n.308+1817del
ENST00000652099.1:c.306+1817del
ENST00000652423.1:c.184+1817del	ENSP00000498948.1:n.184+1817del
ENST00000303236.7:c.308+1817del	ENSP00000307235.3:n.308+1817del
NM_004836.5:c.308+1817del	NP_004827.4:n.308+1817del
NM_004836.6:c.308+1817del	NP_004827.4:n.308+1817del
XR_939749.1:n.517+1817del
XM_017005376.2:c.-573+1817del	XP_016860865.1:n.-573+1817del
NM_004836.7:c.308+1817del MANE Select	NP_004827.4:n.308+1817del