Canonical Allele Identifier: CA1425881679

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136825_184136826delinsGA , CM000665.2:g.184136825_184136826delinsGA	GRCh38
NC_000003.11:g.183854613_183854614delinsGA , CM000665.1:g.183854613_183854614delinsGA	GRCh37
NC_000003.10:g.185337307_185337308delinsGA	NCBI36
NG_015826.1:g.6804_6805delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*85_*86delinsGA	ENSP00000414775.1:n.*85_*86delinsGA
ENST00000465218.3:n.343+89_343+90delinsGA
ENST00000468748.7:n.303+89_303+90delinsGA
ENST00000471832.2:c.*403_*404delinsGA	ENSP00000497786.1:n.*403_*404delinsGA
ENST00000484154.2:n.147_148delinsGA
ENST00000491008.6:n.274_275delinsGA
ENST00000492226.2:n.317+89_317+90delinsGA
ENST00000492773.6:c.52+89_52+90delinsGA
ENST00000647636.1:c.320+89_320+90delinsGA	ENSP00000497505.1:n.320+89_320+90delinsGA
ENST00000647909.1:c.320+89_320+90delinsGA	ENSP00000498164.1:n.320+89_320+90delinsGA
ENST00000648145.1:c.88+89_88+90delinsGA
ENST00000648189.1:c.70+89_70+90delinsGA
ENST00000648256.1:c.269+89_269+90delinsGA	ENSP00000497356.1:n.269+89_269+90delinsGA
ENST00000648314.1:c.320+89_320+90delinsGA	ENSP00000496920.1:n.320+89_320+90delinsGA
ENST00000648599.1:c.320+89_320+90delinsGA	ENSP00000497159.1:n.320+89_320+90delinsGA
ENST00000648630.1:c.314+89_314+90delinsGA	ENSP00000497887.1:n.314+89_314+90delinsGA
ENST00000648682.1:c.320+89_320+90delinsGA	ENSP00000498185.1:n.320+89_320+90delinsGA
ENST00000648882.1:c.*146+89_*146+90delinsGA	ENSP00000497603.1:n.*146+89_*146+90delinsGA
ENST00000648890.1:c.320+89_320+90delinsGA	ENSP00000497503.1:n.320+89_320+90delinsGA
ENST00000648915.2:c.320+89_320+90delinsGA MANE Select	ENSP00000497160.1:n.320+89_320+90delinsGA
ENST00000649545.1:c.54+89_54+90delinsGA
ENST00000649688.1:c.320+89_320+90delinsGA	ENSP00000497097.1:n.320+89_320+90delinsGA
ENST00000649814.1:n.369+89_369+90delinsGA
ENST00000650244.1:c.465+89_465+90delinsGA	ENSP00000497227.1:n.465+89_465+90delinsGA
ENST00000650270.1:c.187+89_187+90delinsGA
ENST00000273783.7:c.320+89_320+90delinsGA	ENSP00000273783.3:n.320+89_320+90delinsGA
ENST00000432569.1:c.*85_*86delinsGA	ENSP00000414775.1:n.*85_*86delinsGA
ENST00000432982.5:c.245+150_245+151delinsGA
ENST00000444495.1:c.320+89_320+90delinsGA	ENSP00000409142.1:n.320+89_320+90delinsGA
ENST00000471832.1:n.340_341delinsGA
ENST00000481054.5:n.321+89_321+90delinsGA
ENST00000491144.5:n.668+89_668+90delinsGA
ENST00000498831.1:n.176+89_176+90delinsGA
NM_003907.2:c.320+89_320+90delinsGA	NP_003898.2:n.320+89_320+90delinsGA
XR_924208.1:n.1271+89_1271+90delinsGA
NM_003907.3:c.320+89_320+90delinsGA MANE Select	NP_003898.2:n.320+89_320+90delinsGA
XM_011513266.3:c.-582+89_-582+90delinsGA	XP_011511568.1:n.-582+89_-582+90delinsGA
XR_001740352.2:n.683+89_683+90delinsGA
XR_001740353.2:n.683+89_683+90delinsGA
XR_924208.2:n.683+89_683+90delinsGA