Canonical Allele Identifier: CA88840431
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113994052
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137752_184137753del , CM000665.2:g.184137752_184137753del GRCh38
NC_000003.11:g.183855540_183855541del , CM000665.1:g.183855540_183855541del GRCh37
NC_000003.10:g.185338234_185338235del NCBI36
NG_015826.1:g.7731_7732del

Transcript Alleles

HGVS Amino-acid change
ENST00000465218.3:n.476_477del
ENST00000468748.7:n.436_437del
ENST00000484154.2:n.1074_1075del
ENST00000491008.6:n.1201_1202del
ENST00000492226.2:n.450_451del
ENST00000492773.6:c.185_186del
ENST00000647636.1:c.453_454del ENSP00000497505.1:p.Tyr152TrpfsTer14
ENST00000647909.1:c.453_454del ENSP00000498164.1:p.Tyr152TrpfsTer14
ENST00000648145.1:c.221_222del
ENST00000648189.1:c.203_204del
ENST00000648256.1:c.402_403del ENSP00000497356.1:p.Tyr135TrpfsTer14
ENST00000648314.1:c.453_454del ENSP00000496920.1:p.Tyr152TrpfsTer14
ENST00000648599.1:c.453_454del ENSP00000497159.1:p.Tyr152TrpfsTer14
ENST00000648630.1:c.447_448del ENSP00000497887.1:p.Tyr150TrpfsTer14
ENST00000648682.1:c.453_454del ENSP00000498185.1:p.Tyr152TrpfsTer14
ENST00000648882.1:c.*279_*280del ENSP00000497603.1:n.*279_*280del
ENST00000648890.1:c.453_454del ENSP00000497503.1:p.Tyr152TrpfsTer14
ENST00000648915.2:c.453_454del MANE Select ENSP00000497160.1:p.Tyr152TrpfsTer14
ENST00000649545.1:c.187_188del
ENST00000649688.1:c.453_454del ENSP00000497097.1:p.Tyr152TrpfsTer14
ENST00000649814.1:n.502_503del
ENST00000650244.1:c.598_599del ENSP00000497227.1:n.598_599del
ENST00000650270.1:c.320_321del
ENST00000273783.7:c.453_454del ENSP00000273783.3:p.Tyr152TrpfsTer14
ENST00000432982.5:c.245+1077_245+1078del
ENST00000444495.1:c.453_454del ENSP00000409142.1:p.Tyr152TrpfsTer14
ENST00000481054.5:n.454_455del
ENST00000491008.5:n.417_418del
ENST00000491144.5:n.801_802del
ENST00000498831.1:n.408_409del
NM_003907.2:c.453_454del NP_003898.2:p.Tyr152TrpfsTer14
XR_924208.1:n.1404_1405del
NM_003907.3:c.453_454del MANE Select NP_003898.2:p.Tyr152TrpfsTer14
XM_011513266.3:c.-449_-448del XP_011511568.1:n.-449_-448del
XR_001740352.2:n.816_817del
XR_001740353.2:n.816_817del
XR_924208.2:n.816_817del
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