Canonical Allele Identifier: CA1425881751
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184136904_184136910delinsTTGTATC , CM000665.2:g.184136904_184136910delinsTTGTATC GRCh38
NC_000003.11:g.183854692_183854698delinsTTGTATC , CM000665.1:g.183854692_183854698delinsTTGTATC GRCh37
NC_000003.10:g.185337386_185337392delinsTTGTATC NCBI36
NG_015826.1:g.6883_6889delinsTTGTATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000432569.2:c.*164_*170delinsTTGTATC ENSP00000414775.1:n.*164_*170delinsTTGTATC
ENST00000465218.3:n.343+168_343+174delinsTTGTATC
ENST00000468748.7:n.303+168_303+174delinsTTGTATC
ENST00000471832.2:c.*482_*488delinsTTGTATC ENSP00000497786.1:n.*482_*488delinsTTGTATC
ENST00000484154.2:n.226_232delinsTTGTATC
ENST00000491008.6:n.353_359delinsTTGTATC
ENST00000492226.2:n.317+168_317+174delinsTTGTATC
ENST00000492773.6:c.52+168_52+174delinsTTGTATC
ENST00000647636.1:c.320+168_320+174delinsTTGTATC ENSP00000497505.1:n.320+168_320+174delinsTTGTATC
ENST00000647909.1:c.320+168_320+174delinsTTGTATC ENSP00000498164.1:n.320+168_320+174delinsTTGTATC
ENST00000648145.1:c.88+168_88+174delinsTTGTATC
ENST00000648189.1:c.70+168_70+174delinsTTGTATC
ENST00000648256.1:c.269+168_269+174delinsTTGTATC ENSP00000497356.1:n.269+168_269+174delinsTTGTATC
ENST00000648314.1:c.320+168_320+174delinsTTGTATC ENSP00000496920.1:n.320+168_320+174delinsTTGTATC
ENST00000648599.1:c.320+168_320+174delinsTTGTATC ENSP00000497159.1:n.320+168_320+174delinsTTGTATC
ENST00000648630.1:c.314+168_314+174delinsTTGTATC ENSP00000497887.1:n.314+168_314+174delinsTTGTATC
ENST00000648682.1:c.320+168_320+174delinsTTGTATC ENSP00000498185.1:n.320+168_320+174delinsTTGTATC
ENST00000648882.1:c.*146+168_*146+174delinsTTGTATC ENSP00000497603.1:n.*146+168_*146+174delinsTTGTATC
ENST00000648890.1:c.320+168_320+174delinsTTGTATC ENSP00000497503.1:n.320+168_320+174delinsTTGTATC
ENST00000648915.2:c.320+168_320+174delinsTTGTATC MANE Select ENSP00000497160.1:n.320+168_320+174delinsTTGTATC
ENST00000649545.1:c.54+168_54+174delinsTTGTATC
ENST00000649688.1:c.320+168_320+174delinsTTGTATC ENSP00000497097.1:n.320+168_320+174delinsTTGTATC
ENST00000649814.1:n.369+168_369+174delinsTTGTATC
ENST00000650244.1:c.465+168_465+174delinsTTGTATC ENSP00000497227.1:n.465+168_465+174delinsTTGTATC
ENST00000650270.1:c.187+168_187+174delinsTTGTATC
ENST00000273783.7:c.320+168_320+174delinsTTGTATC ENSP00000273783.3:n.320+168_320+174delinsTTGTATC
ENST00000432569.1:c.*164_*170delinsTTGTATC ENSP00000414775.1:n.*164_*170delinsTTGTATC
ENST00000432982.5:c.245+229_245+235delinsTTGTATC
ENST00000444495.1:c.320+168_320+174delinsTTGTATC ENSP00000409142.1:n.320+168_320+174delinsTTGTATC
ENST00000471832.1:n.419_425delinsTTGTATC
ENST00000481054.5:n.321+168_321+174delinsTTGTATC
ENST00000491144.5:n.668+168_668+174delinsTTGTATC
ENST00000498831.1:n.176+168_176+174delinsTTGTATC
NM_003907.2:c.320+168_320+174delinsTTGTATC NP_003898.2:n.320+168_320+174delinsTTGTATC
XR_924208.1:n.1271+168_1271+174delinsTTGTATC
NM_003907.3:c.320+168_320+174delinsTTGTATC MANE Select NP_003898.2:n.320+168_320+174delinsTTGTATC
XM_011513266.3:c.-582+168_-582+174delinsTTGTATC XP_011511568.1:n.-582+168_-582+174delinsTTGTATC
XR_001740352.2:n.683+168_683+174delinsTTGTATC
XR_001740353.2:n.683+168_683+174delinsTTGTATC
XR_924208.2:n.683+168_683+174delinsTTGTATC