Canonical Allele Identifier: CA646825705
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625160_88625172del , CM000664.2:g.88625160_88625172del GRCh38
NC_000002.11:g.88924678_88924690del , CM000664.1:g.88924678_88924690del GRCh37
NC_000002.10:g.88705793_88705805del NCBI36
NG_016424.1:g.7405_7417del

Transcript Alleles

HGVS Amino-acid change
ENST00000682892.1:c.-145-11319_-145-11307del ENSP00000507214.1:n.-145-11319_-145-11307...
ENST00000303236.9:c.308+1795_308+1807del MANE Select ENSP00000307235.3:n.308+1795_308+1807del
ENST00000652099.1:c.306+1795_306+1807del
ENST00000652423.1:c.184+1795_184+1807del ENSP00000498948.1:n.184+1795_184+1807del
ENST00000303236.7:c.308+1795_308+1807del ENSP00000307235.3:n.308+1795_308+1807del
NM_004836.5:c.308+1795_308+1807del NP_004827.4:n.308+1795_308+1807del
NM_004836.6:c.308+1795_308+1807del NP_004827.4:n.308+1795_308+1807del
XR_939749.1:n.517+1795_517+1807del
XM_017005376.2:c.-573+1795_-573+1807del XP_016860865.1:n.-573+1795_-573+1807del
NM_004836.7:c.308+1795_308+1807del MANE Select NP_004827.4:n.308+1795_308+1807del