Canonical Allele Identifier: CA2750855581

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575569_88575570insCACCCAAC , CM000664.2:g.88575569_88575570insCACCCAAC	GRCh38
NC_000002.11:g.88875087_88875088insCACCCAAC , CM000664.1:g.88875087_88875088insCACCCAAC	GRCh37
NC_000002.10:g.88656202_88656203insCACCCAAC	NCBI36
NG_016424.1:g.57007_57008insGTTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-124_1865-123insGTTGGGTG
ENST00000682276.1:n.1482-124_1482-123insGTTGGGTG
ENST00000682892.1:c.1584-124_1584-123insGTTGGGTG	ENSP00000507214.1:n.1584-124_1584-123insGTTGGGTG
ENST00000682952.1:n.1676-124_1676-123insGTTGGGTG
ENST00000684455.1:c.1250-124_1250-123insGTTGGGTG
ENST00000684642.1:c.1434-124_1434-123insGTTGGGTG	ENSP00000507355.1:n.1434-124_1434-123insGTTGGGTG
ENST00000684740.1:n.2215-124_2215-123insGTTGGGTG
ENST00000303236.9:c.2037-124_2037-123insGTTGGGTG MANE Select	ENSP00000307235.3:n.2037-124_2037-123insGTTGGGTG
ENST00000652099.1:c.2231-124_2231-123insGTTGGGTG
ENST00000652736.1:n.1913-124_1913-123insGTTGGGTG
ENST00000303236.7:c.2037-124_2037-123insGTTGGGTG	ENSP00000307235.3:n.2037-124_2037-123insGTTGGGTG
ENST00000415570.1:c.1674-124_1674-123insGTTGGGTG	ENSP00000412076.1:n.1674-124_1674-123insGTTGGGTG
ENST00000419748.5:c.1584-124_1584-123insGTTGGGTG	ENSP00000408325.1:n.1584-124_1584-123insGTTGGGTG
ENST00000478003.1:n.603-124_603-123insGTTGGGTG
NM_001313915.1:c.1584-124_1584-123insGTTGGGTG	NP_001300844.1:n.1584-124_1584-123insGTTGGGTG
NM_004836.5:c.2037-124_2037-123insGTTGGGTG	NP_004827.4:n.2037-124_2037-123insGTTGGGTG
NM_004836.6:c.2037-124_2037-123insGTTGGGTG	NP_004827.4:n.2037-124_2037-123insGTTGGGTG
NR_110236.1:n.1706_1707insCACCCAAC
XM_005264649.3:c.1353-124_1353-123insGTTGGGTG	XP_005264706.1:n.1353-124_1353-123insGTTGGGTG
XR_939749.1:n.2316-124_2316-123insGTTGGGTG
XM_017005376.2:c.1353-124_1353-123insGTTGGGTG	XP_016860865.1:n.1353-124_1353-123insGTTGGGTG
NM_004836.7:c.2037-124_2037-123insGTTGGGTG MANE Select	NP_004827.4:n.2037-124_2037-123insGTTGGGTG
NM_001313915.2:c.1584-124_1584-123insGTTGGGTG	NP_001300844.1:n.1584-124_1584-123insGTTGGGTG