Canonical Allele Identifier: CA1425881772

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136934_184136941delinsCAAAGATT , CM000665.2:g.184136934_184136941delinsCAAAGATT	GRCh38
NC_000003.11:g.183854722_183854729delinsCAAAGATT , CM000665.1:g.183854722_183854729delinsCAAAGATT	GRCh37
NC_000003.10:g.185337416_185337423delinsCAAAGATT	NCBI36
NG_015826.1:g.6913_6920delinsCAAAGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*194_*201delinsCAAAGATT	ENSP00000414775.1:n.*194_*201delinsCAAAGATT
ENST00000465218.3:n.343+198_343+205delinsCAAAGATT
ENST00000468748.7:n.303+198_303+205delinsCAAAGATT
ENST00000471832.2:c.*512_*519delinsCAAAGATT	ENSP00000497786.1:n.*512_*519delinsCAAAGATT
ENST00000484154.2:n.256_263delinsCAAAGATT
ENST00000491008.6:n.383_390delinsCAAAGATT
ENST00000492226.2:n.317+198_317+205delinsCAAAGATT
ENST00000492773.6:c.52+198_52+205delinsCAAAGATT
ENST00000647636.1:c.320+198_320+205delinsCAAAGATT	ENSP00000497505.1:n.320+198_320+205delinsCAAAGATT
ENST00000647909.1:c.320+198_320+205delinsCAAAGATT	ENSP00000498164.1:n.320+198_320+205delinsCAAAGATT
ENST00000648145.1:c.88+198_88+205delinsCAAAGATT
ENST00000648189.1:c.70+198_70+205delinsCAAAGATT
ENST00000648256.1:c.269+198_269+205delinsCAAAGATT	ENSP00000497356.1:n.269+198_269+205delinsCAAAGATT
ENST00000648314.1:c.320+198_320+205delinsCAAAGATT	ENSP00000496920.1:n.320+198_320+205delinsCAAAGATT
ENST00000648599.1:c.320+198_320+205delinsCAAAGATT	ENSP00000497159.1:n.320+198_320+205delinsCAAAGATT
ENST00000648630.1:c.314+198_314+205delinsCAAAGATT	ENSP00000497887.1:n.314+198_314+205delinsCAAAGATT
ENST00000648682.1:c.320+198_320+205delinsCAAAGATT	ENSP00000498185.1:n.320+198_320+205delinsCAAAGATT
ENST00000648882.1:c.*146+198_*146+205delinsCAAAGATT	ENSP00000497603.1:n.*146+198_*146+205delinsCAAAGATT
ENST00000648890.1:c.320+198_320+205delinsCAAAGATT	ENSP00000497503.1:n.320+198_320+205delinsCAAAGATT
ENST00000648915.2:c.320+198_320+205delinsCAAAGATT MANE Select	ENSP00000497160.1:n.320+198_320+205delinsCAAAGATT
ENST00000649545.1:c.54+198_54+205delinsCAAAGATT
ENST00000649688.1:c.320+198_320+205delinsCAAAGATT	ENSP00000497097.1:n.320+198_320+205delinsCAAAGATT
ENST00000649814.1:n.369+198_369+205delinsCAAAGATT
ENST00000650244.1:c.465+198_465+205delinsCAAAGATT	ENSP00000497227.1:n.465+198_465+205delinsCAAAGATT
ENST00000650270.1:c.187+198_187+205delinsCAAAGATT
ENST00000273783.7:c.320+198_320+205delinsCAAAGATT	ENSP00000273783.3:n.320+198_320+205delinsCAAAGATT
ENST00000432569.1:c.*194_*201delinsCAAAGATT	ENSP00000414775.1:n.*194_*201delinsCAAAGATT
ENST00000432982.5:c.245+259_245+266delinsCAAAGATT
ENST00000444495.1:c.320+198_320+205delinsCAAAGATT	ENSP00000409142.1:n.320+198_320+205delinsCAAAGATT
ENST00000471832.1:n.449_456delinsCAAAGATT
ENST00000481054.5:n.321+198_321+205delinsCAAAGATT
ENST00000491144.5:n.668+198_668+205delinsCAAAGATT
ENST00000498831.1:n.176+198_176+205delinsCAAAGATT
NM_003907.2:c.320+198_320+205delinsCAAAGATT	NP_003898.2:n.320+198_320+205delinsCAAAGATT
XR_924208.1:n.1271+198_1271+205delinsCAAAGATT
NM_003907.3:c.320+198_320+205delinsCAAAGATT MANE Select	NP_003898.2:n.320+198_320+205delinsCAAAGATT
XM_011513266.3:c.-582+198_-582+205delinsCAAAGATT	XP_011511568.1:n.-582+198_-582+205delinsCAAAGATT
XR_001740352.2:n.683+198_683+205delinsCAAAGATT
XR_001740353.2:n.683+198_683+205delinsCAAAGATT
XR_924208.2:n.683+198_683+205delinsCAAAGATT