Canonical Allele Identifier: CA1425881794

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136952_184136954delinsCTT , CM000665.2:g.184136952_184136954delinsCTT	GRCh38
NC_000003.11:g.183854740_183854742delinsCTT , CM000665.1:g.183854740_183854742delinsCTT	GRCh37
NC_000003.10:g.185337434_185337436delinsCTT	NCBI36
NG_015826.1:g.6931_6933delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*212_*214delinsCTT	ENSP00000414775.1:n.*212_*214delinsCTT
ENST00000465218.3:n.343+216_343+218delinsCTT
ENST00000468748.7:n.303+216_303+218delinsCTT
ENST00000471832.2:c.*530_*532delinsCTT	ENSP00000497786.1:n.*530_*532delinsCTT
ENST00000484154.2:n.274_276delinsCTT
ENST00000491008.6:n.401_403delinsCTT
ENST00000492226.2:n.317+216_317+218delinsCTT
ENST00000492773.6:c.52+216_52+218delinsCTT
ENST00000647636.1:c.320+216_320+218delinsCTT	ENSP00000497505.1:n.320+216_320+218delinsCTT
ENST00000647909.1:c.320+216_320+218delinsCTT	ENSP00000498164.1:n.320+216_320+218delinsCTT
ENST00000648145.1:c.88+216_88+218delinsCTT
ENST00000648189.1:c.70+216_70+218delinsCTT
ENST00000648256.1:c.269+216_269+218delinsCTT	ENSP00000497356.1:n.269+216_269+218delinsCTT
ENST00000648314.1:c.320+216_320+218delinsCTT	ENSP00000496920.1:n.320+216_320+218delinsCTT
ENST00000648599.1:c.320+216_320+218delinsCTT	ENSP00000497159.1:n.320+216_320+218delinsCTT
ENST00000648630.1:c.314+216_314+218delinsCTT	ENSP00000497887.1:n.314+216_314+218delinsCTT
ENST00000648682.1:c.320+216_320+218delinsCTT	ENSP00000498185.1:n.320+216_320+218delinsCTT
ENST00000648882.1:c.*146+216_*146+218delinsCTT	ENSP00000497603.1:n.*146+216_*146+218delinsCTT
ENST00000648890.1:c.320+216_320+218delinsCTT	ENSP00000497503.1:n.320+216_320+218delinsCTT
ENST00000648915.2:c.320+216_320+218delinsCTT MANE Select	ENSP00000497160.1:n.320+216_320+218delinsCTT
ENST00000649545.1:c.54+216_54+218delinsCTT
ENST00000649688.1:c.320+216_320+218delinsCTT	ENSP00000497097.1:n.320+216_320+218delinsCTT
ENST00000649814.1:n.369+216_369+218delinsCTT
ENST00000650244.1:c.465+216_465+218delinsCTT	ENSP00000497227.1:n.465+216_465+218delinsCTT
ENST00000650270.1:c.187+216_187+218delinsCTT
ENST00000273783.7:c.320+216_320+218delinsCTT	ENSP00000273783.3:n.320+216_320+218delinsCTT
ENST00000432569.1:c.*212_*214delinsCTT	ENSP00000414775.1:n.*212_*214delinsCTT
ENST00000432982.5:c.245+277_245+279delinsCTT
ENST00000444495.1:c.320+216_320+218delinsCTT	ENSP00000409142.1:n.320+216_320+218delinsCTT
ENST00000471832.1:n.467_469delinsCTT
ENST00000481054.5:n.321+216_321+218delinsCTT
ENST00000491144.5:n.668+216_668+218delinsCTT
ENST00000498831.1:n.176+216_176+218delinsCTT
NM_003907.2:c.320+216_320+218delinsCTT	NP_003898.2:n.320+216_320+218delinsCTT
XR_924208.1:n.1271+216_1271+218delinsCTT
NM_003907.3:c.320+216_320+218delinsCTT MANE Select	NP_003898.2:n.320+216_320+218delinsCTT
XM_011513266.3:c.-582+216_-582+218delinsCTT	XP_011511568.1:n.-582+216_-582+218delinsCTT
XR_001740352.2:n.683+216_683+218delinsCTT
XR_001740353.2:n.683+216_683+218delinsCTT
XR_924208.2:n.683+216_683+218delinsCTT