Canonical Allele Identifier: CA1268211557

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583356_88583357delinsTA , CM000664.2:g.88583356_88583357delinsTA	GRCh38
NC_000002.11:g.88882874_88882875delinsTA , CM000664.1:g.88882874_88882875delinsTA	GRCh37
NC_000002.10:g.88663989_88663990delinsTA	NCBI36
NG_016424.1:g.49220_49221delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+73_1208+74delinsTA
ENST00000682892.1:c.1310+73_1310+74delinsTA	ENSP00000507214.1:n.1310+73_1310+74delinsTA
ENST00000682952.1:n.1402+73_1402+74delinsTA
ENST00000684455.1:c.976+73_976+74delinsTA
ENST00000684642.1:c.1160+73_1160+74delinsTA	ENSP00000507355.1:n.1160+73_1160+74delinsTA
ENST00000303236.9:c.1763+73_1763+74delinsTA MANE Select	ENSP00000307235.3:n.1763+73_1763+74delinsTA
ENST00000652099.1:c.1957+73_1957+74delinsTA
ENST00000652736.1:n.1639+73_1639+74delinsTA
ENST00000303236.7:c.1763+73_1763+74delinsTA	ENSP00000307235.3:n.1763+73_1763+74delinsTA
ENST00000415570.1:c.1400+73_1400+74delinsTA	ENSP00000412076.1:n.1400+73_1400+74delinsTA
ENST00000419748.5:c.1310+73_1310+74delinsTA	ENSP00000408325.1:n.1310+73_1310+74delinsTA
NM_001313915.1:c.1310+73_1310+74delinsTA	NP_001300844.1:n.1310+73_1310+74delinsTA
NM_004836.5:c.1763+73_1763+74delinsTA	NP_004827.4:n.1763+73_1763+74delinsTA
NM_004836.6:c.1763+73_1763+74delinsTA	NP_004827.4:n.1763+73_1763+74delinsTA
XM_005264649.3:c.1079+73_1079+74delinsTA	XP_005264706.1:n.1079+73_1079+74delinsTA
XR_939749.1:n.1972+73_1972+74delinsTA
XM_017005376.2:c.1079+73_1079+74delinsTA	XP_016860865.1:n.1079+73_1079+74delinsTA
NM_004836.7:c.1763+73_1763+74delinsTA MANE Select	NP_004827.4:n.1763+73_1763+74delinsTA
NM_001313915.2:c.1310+73_1310+74delinsTA	NP_001300844.1:n.1310+73_1310+74delinsTA