Canonical Allele Identifier: CA2660012624

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583329-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583333del , CM000664.2:g.88583333del	GRCh38
NC_000002.11:g.88882851del , CM000664.1:g.88882851del	GRCh37
NC_000002.10:g.88663966del	NCBI36
NG_016424.1:g.49247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+100del
ENST00000682892.1:c.1310+100del	ENSP00000507214.1:n.1310+100del
ENST00000682952.1:n.1402+100del
ENST00000684455.1:c.976+100del
ENST00000684642.1:c.1160+100del	ENSP00000507355.1:n.1160+100del
ENST00000303236.9:c.1763+100del MANE Select	ENSP00000307235.3:n.1763+100del
ENST00000652099.1:c.1957+100del
ENST00000652736.1:n.1639+100del
ENST00000303236.7:c.1763+100del	ENSP00000307235.3:n.1763+100del
ENST00000415570.1:c.1400+100del	ENSP00000412076.1:n.1400+100del
ENST00000419748.5:c.1310+100del	ENSP00000408325.1:n.1310+100del
NM_001313915.1:c.1310+100del	NP_001300844.1:n.1310+100del
NM_004836.5:c.1763+100del	NP_004827.4:n.1763+100del
NM_004836.6:c.1763+100del	NP_004827.4:n.1763+100del
XM_005264649.3:c.1079+100del	XP_005264706.1:n.1079+100del
XR_939749.1:n.1972+100del
XM_017005376.2:c.1079+100del	XP_016860865.1:n.1079+100del
NM_004836.7:c.1763+100del MANE Select	NP_004827.4:n.1763+100del
NM_001313915.2:c.1310+100del	NP_001300844.1:n.1310+100del