Canonical Allele Identifier: CA2750855582

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575570_88575571insAC , CM000664.2:g.88575570_88575571insAC	GRCh38
NC_000002.11:g.88875088_88875089insAC , CM000664.1:g.88875088_88875089insAC	GRCh37
NC_000002.10:g.88656203_88656204insAC	NCBI36
NG_016424.1:g.57006_57007insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-125_1865-124insGT
ENST00000682276.1:n.1482-125_1482-124insGT
ENST00000682892.1:c.1584-125_1584-124insGT	ENSP00000507214.1:n.1584-125_1584-124insGT
ENST00000682952.1:n.1676-125_1676-124insGT
ENST00000684455.1:c.1250-125_1250-124insGT
ENST00000684642.1:c.1434-125_1434-124insGT	ENSP00000507355.1:n.1434-125_1434-124insGT
ENST00000684740.1:n.2215-125_2215-124insGT
ENST00000303236.9:c.2037-125_2037-124insGT MANE Select	ENSP00000307235.3:n.2037-125_2037-124insGT
ENST00000652099.1:c.2231-125_2231-124insGT
ENST00000652736.1:n.1913-125_1913-124insGT
ENST00000303236.7:c.2037-125_2037-124insGT	ENSP00000307235.3:n.2037-125_2037-124insGT
ENST00000415570.1:c.1674-125_1674-124insGT	ENSP00000412076.1:n.1674-125_1674-124insGT
ENST00000419748.5:c.1584-125_1584-124insGT	ENSP00000408325.1:n.1584-125_1584-124insGT
ENST00000478003.1:n.603-125_603-124insGT
NM_001313915.1:c.1584-125_1584-124insGT	NP_001300844.1:n.1584-125_1584-124insGT
NM_004836.5:c.2037-125_2037-124insGT	NP_004827.4:n.2037-125_2037-124insGT
NM_004836.6:c.2037-125_2037-124insGT	NP_004827.4:n.2037-125_2037-124insGT
NR_110236.1:n.1707_1708insAC
XM_005264649.3:c.1353-125_1353-124insGT	XP_005264706.1:n.1353-125_1353-124insGT
XR_939749.1:n.2316-125_2316-124insGT
XM_017005376.2:c.1353-125_1353-124insGT	XP_016860865.1:n.1353-125_1353-124insGT
NM_004836.7:c.2037-125_2037-124insGT MANE Select	NP_004827.4:n.2037-125_2037-124insGT
NM_001313915.2:c.1584-125_1584-124insGT	NP_001300844.1:n.1584-125_1584-124insGT