Canonical Allele Identifier: CA2660012646

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583368-TAAACAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583370_88583376del , CM000664.2:g.88583370_88583376del	GRCh38
NC_000002.11:g.88882888_88882894del , CM000664.1:g.88882888_88882894del	GRCh37
NC_000002.10:g.88664003_88664009del	NCBI36
NG_016424.1:g.49202_49208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+55_1208+61del
ENST00000682892.1:c.1310+55_1310+61del	ENSP00000507214.1:n.1310+55_1310+61del
ENST00000682952.1:n.1402+55_1402+61del
ENST00000684455.1:c.976+55_976+61del
ENST00000684642.1:c.1160+55_1160+61del	ENSP00000507355.1:n.1160+55_1160+61del
ENST00000303236.9:c.1763+55_1763+61del MANE Select	ENSP00000307235.3:n.1763+55_1763+61del
ENST00000652099.1:c.1957+55_1957+61del
ENST00000652736.1:n.1639+55_1639+61del
ENST00000303236.7:c.1763+55_1763+61del	ENSP00000307235.3:n.1763+55_1763+61del
ENST00000415570.1:c.1400+55_1400+61del	ENSP00000412076.1:n.1400+55_1400+61del
ENST00000419748.5:c.1310+55_1310+61del	ENSP00000408325.1:n.1310+55_1310+61del
NM_001313915.1:c.1310+55_1310+61del	NP_001300844.1:n.1310+55_1310+61del
NM_004836.5:c.1763+55_1763+61del	NP_004827.4:n.1763+55_1763+61del
NM_004836.6:c.1763+55_1763+61del	NP_004827.4:n.1763+55_1763+61del
XM_005264649.3:c.1079+55_1079+61del	XP_005264706.1:n.1079+55_1079+61del
XR_939749.1:n.1972+55_1972+61del
XM_017005376.2:c.1079+55_1079+61del	XP_016860865.1:n.1079+55_1079+61del
NM_004836.7:c.1763+55_1763+61del MANE Select	NP_004827.4:n.1763+55_1763+61del
NM_001313915.2:c.1310+55_1310+61del	NP_001300844.1:n.1310+55_1310+61del