Canonical Allele Identifier: CA1268228995

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88625026_88625035delinsCACTCAGGAT , CM000664.2:g.88625026_88625035delinsCACTCAGGAT	GRCh38
NC_000002.11:g.88924544_88924553delinsCACTCAGGAT , CM000664.1:g.88924544_88924553delinsCACTCAGGAT	GRCh37
NC_000002.10:g.88705659_88705668delinsCACTCAGGAT	NCBI36
NG_016424.1:g.7542_7551delinsATCCTGAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682892.1:c.-145-11182_-145-11173delinsATCCTGAGTG	ENSP00000507214.1:n.-145-11182_-145-11173...
ENST00000303236.9:c.308+1932_308+1941delinsATCCTGAGTG MANE Select	ENSP00000307235.3:n.308+1932_308+1941deli...
ENST00000652099.1:c.306+1932_306+1941delinsATCCTGAGTG
ENST00000652423.1:c.184+1932_184+1941delinsATCCTGAGTG	ENSP00000498948.1:n.184+1932_184+1941deli...
ENST00000303236.7:c.308+1932_308+1941delinsATCCTGAGTG	ENSP00000307235.3:n.308+1932_308+1941deli...
NM_004836.5:c.308+1932_308+1941delinsATCCTGAGTG	NP_004827.4:n.308+1932_308+1941delinsATCC...
NM_004836.6:c.308+1932_308+1941delinsATCCTGAGTG	NP_004827.4:n.308+1932_308+1941delinsATCC...
XR_939749.1:n.517+1932_517+1941delinsATCCTGAGTG
XM_017005376.2:c.-573+1932_-573+1941delinsATCCTGAGTG	XP_016860865.1:n.-573+1932_-573+1941delin...
NM_004836.7:c.308+1932_308+1941delinsATCCTGAGTG MANE Select	NP_004827.4:n.308+1932_308+1941delinsATCC...