Canonical Allele Identifier: CA2759711435

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136936_184136937del , CM000665.2:g.184136936_184136937del	GRCh38
NC_000003.11:g.183854724_183854725del , CM000665.1:g.183854724_183854725del	GRCh37
NC_000003.10:g.185337418_185337419del	NCBI36
NG_015826.1:g.6915_6916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*196_*197del	ENSP00000414775.1:n.*196_*197del
ENST00000465218.3:n.343+200_343+201del
ENST00000468748.7:n.303+200_303+201del
ENST00000471832.2:c.*514_*515del	ENSP00000497786.1:n.*514_*515del
ENST00000484154.2:n.258_259del
ENST00000491008.6:n.385_386del
ENST00000492226.2:n.317+200_317+201del
ENST00000492773.6:c.52+200_52+201del
ENST00000647636.1:c.320+200_320+201del	ENSP00000497505.1:n.320+200_320+201del
ENST00000647909.1:c.320+200_320+201del	ENSP00000498164.1:n.320+200_320+201del
ENST00000648145.1:c.88+200_88+201del
ENST00000648189.1:c.70+200_70+201del
ENST00000648256.1:c.269+200_269+201del	ENSP00000497356.1:n.269+200_269+201del
ENST00000648314.1:c.320+200_320+201del	ENSP00000496920.1:n.320+200_320+201del
ENST00000648599.1:c.320+200_320+201del	ENSP00000497159.1:n.320+200_320+201del
ENST00000648630.1:c.314+200_314+201del	ENSP00000497887.1:n.314+200_314+201del
ENST00000648682.1:c.320+200_320+201del	ENSP00000498185.1:n.320+200_320+201del
ENST00000648882.1:c.*146+200_*146+201del	ENSP00000497603.1:n.*146+200_*146+201del
ENST00000648890.1:c.320+200_320+201del	ENSP00000497503.1:n.320+200_320+201del
ENST00000648915.2:c.320+200_320+201del MANE Select	ENSP00000497160.1:n.320+200_320+201del
ENST00000649545.1:c.54+200_54+201del
ENST00000649688.1:c.320+200_320+201del	ENSP00000497097.1:n.320+200_320+201del
ENST00000649814.1:n.369+200_369+201del
ENST00000650244.1:c.465+200_465+201del	ENSP00000497227.1:n.465+200_465+201del
ENST00000650270.1:c.187+200_187+201del
ENST00000273783.7:c.320+200_320+201del	ENSP00000273783.3:n.320+200_320+201del
ENST00000432569.1:c.*196_*197del	ENSP00000414775.1:n.*196_*197del
ENST00000432982.5:c.245+261_245+262del
ENST00000444495.1:c.320+200_320+201del	ENSP00000409142.1:n.320+200_320+201del
ENST00000471832.1:n.451_452del
ENST00000481054.5:n.321+200_321+201del
ENST00000491144.5:n.668+200_668+201del
ENST00000498831.1:n.176+200_176+201del
NM_003907.2:c.320+200_320+201del	NP_003898.2:n.320+200_320+201del
XR_924208.1:n.1271+200_1271+201del
NM_003907.3:c.320+200_320+201del MANE Select	NP_003898.2:n.320+200_320+201del
XM_011513266.3:c.-582+200_-582+201del	XP_011511568.1:n.-582+200_-582+201del
XR_001740352.2:n.683+200_683+201del
XR_001740353.2:n.683+200_683+201del
XR_924208.2:n.683+200_683+201del