Canonical Allele Identifier: CA1268229051
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1675826785

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625128_88625132dup , CM000664.2:g.88625128_88625132dup GRCh38
NC_000002.11:g.88924646_88924650dup , CM000664.1:g.88924646_88924650dup GRCh37
NC_000002.10:g.88705761_88705765dup NCBI36
NG_016424.1:g.7446_7450dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682892.1:c.-145-11278_-145-11274dup ENSP00000507214.1:n.-145-11278_-145-11274...
ENST00000303236.9:c.308+1836_308+1840dup MANE Select ENSP00000307235.3:n.308+1836_308+1840dup
ENST00000652099.1:c.306+1836_306+1840dup
ENST00000652423.1:c.184+1836_184+1840dup ENSP00000498948.1:n.184+1836_184+1840dup
ENST00000303236.7:c.308+1836_308+1840dup ENSP00000307235.3:n.308+1836_308+1840dup
NM_004836.5:c.308+1836_308+1840dup NP_004827.4:n.308+1836_308+1840dup
NM_004836.6:c.308+1836_308+1840dup NP_004827.4:n.308+1836_308+1840dup
XR_939749.1:n.517+1836_517+1840dup
XM_017005376.2:c.-573+1836_-573+1840dup XP_016860865.1:n.-573+1836_-573+1840dup
NM_004836.7:c.308+1836_308+1840dup MANE Select NP_004827.4:n.308+1836_308+1840dup