Canonical Allele Identifier: CA1268211587

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583428_88583429delinsAC , CM000664.2:g.88583428_88583429delinsAC	GRCh38
NC_000002.11:g.88882946_88882947delinsAC , CM000664.1:g.88882946_88882947delinsAC	GRCh37
NC_000002.10:g.88664061_88664062delinsAC	NCBI36
NG_016424.1:g.49148_49149delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+1_1208+2delinsGT
ENST00000682892.1:c.1310+1_1310+2delinsGT	ENSP00000507214.1:n.1310+1_1310+2delinsGT
ENST00000682952.1:n.1402+1_1402+2delinsGT
ENST00000684455.1:c.976+1_976+2delinsGT
ENST00000684642.1:c.1160+1_1160+2delinsGT	ENSP00000507355.1:n.1160+1_1160+2delinsGT
ENST00000303236.9:c.1763+1_1763+2delinsGT MANE Select	ENSP00000307235.3:n.1763+1_1763+2delinsGT
ENST00000652099.1:c.1957+1_1957+2delinsGT
ENST00000652736.1:n.1639+1_1639+2delinsGT
ENST00000303236.7:c.1763+1_1763+2delinsGT	ENSP00000307235.3:n.1763+1_1763+2delinsGT
ENST00000415570.1:c.1400+1_1400+2delinsGT	ENSP00000412076.1:n.1400+1_1400+2delinsGT
ENST00000419748.5:c.1310+1_1310+2delinsGT	ENSP00000408325.1:n.1310+1_1310+2delinsGT
NM_001313915.1:c.1310+1_1310+2delinsGT	NP_001300844.1:n.1310+1_1310+2delinsGT
NM_004836.5:c.1763+1_1763+2delinsGT	NP_004827.4:n.1763+1_1763+2delinsGT
NM_004836.6:c.1763+1_1763+2delinsGT	NP_004827.4:n.1763+1_1763+2delinsGT
XM_005264649.3:c.1079+1_1079+2delinsGT	XP_005264706.1:n.1079+1_1079+2delinsGT
XR_939749.1:n.1972+1_1972+2delinsGT
XM_017005376.2:c.1079+1_1079+2delinsGT	XP_016860865.1:n.1079+1_1079+2delinsGT
NM_004836.7:c.1763+1_1763+2delinsGT MANE Select	NP_004827.4:n.1763+1_1763+2delinsGT
NM_001313915.2:c.1310+1_1310+2delinsGT	NP_001300844.1:n.1310+1_1310+2delinsGT