Canonical Allele Identifier: CA2668795771

Gene: EIF2B5

Linked Data

• dbSNP Id: rs2109006451
• gnomAD v4: 3-184136817-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136821_184136822del , CM000665.2:g.184136821_184136822del	GRCh38
NC_000003.11:g.183854609_183854610del , CM000665.1:g.183854609_183854610del	GRCh37
NC_000003.10:g.185337303_185337304del	NCBI36
NG_015826.1:g.6800_6801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*81_*82del	ENSP00000414775.1:n.*81_*82del
ENST00000465218.3:n.343+85_343+86del
ENST00000468748.7:n.303+85_303+86del
ENST00000471832.2:c.*399_*400del	ENSP00000497786.1:n.*399_*400del
ENST00000484154.2:n.143_144del
ENST00000491008.6:n.270_271del
ENST00000492226.2:n.317+85_317+86del
ENST00000492773.6:c.52+85_52+86del
ENST00000647636.1:c.320+85_320+86del	ENSP00000497505.1:n.320+85_320+86del
ENST00000647909.1:c.320+85_320+86del	ENSP00000498164.1:n.320+85_320+86del
ENST00000648145.1:c.88+85_88+86del
ENST00000648189.1:c.70+85_70+86del
ENST00000648256.1:c.269+85_269+86del	ENSP00000497356.1:n.269+85_269+86del
ENST00000648314.1:c.320+85_320+86del	ENSP00000496920.1:n.320+85_320+86del
ENST00000648599.1:c.320+85_320+86del	ENSP00000497159.1:n.320+85_320+86del
ENST00000648630.1:c.314+85_314+86del	ENSP00000497887.1:n.314+85_314+86del
ENST00000648682.1:c.320+85_320+86del	ENSP00000498185.1:n.320+85_320+86del
ENST00000648882.1:c.*146+85_*146+86del	ENSP00000497603.1:n.*146+85_*146+86del
ENST00000648890.1:c.320+85_320+86del	ENSP00000497503.1:n.320+85_320+86del
ENST00000648915.2:c.320+85_320+86del MANE Select	ENSP00000497160.1:n.320+85_320+86del
ENST00000649545.1:c.54+85_54+86del
ENST00000649688.1:c.320+85_320+86del	ENSP00000497097.1:n.320+85_320+86del
ENST00000649814.1:n.369+85_369+86del
ENST00000650244.1:c.465+85_465+86del	ENSP00000497227.1:n.465+85_465+86del
ENST00000650270.1:c.187+85_187+86del
ENST00000273783.7:c.320+85_320+86del	ENSP00000273783.3:n.320+85_320+86del
ENST00000432569.1:c.*81_*82del	ENSP00000414775.1:n.*81_*82del
ENST00000432982.5:c.245+146_245+147del
ENST00000444495.1:c.320+85_320+86del	ENSP00000409142.1:n.320+85_320+86del
ENST00000471832.1:n.336_337del
ENST00000481054.5:n.321+85_321+86del
ENST00000491144.5:n.668+85_668+86del
ENST00000498831.1:n.176+85_176+86del
NM_003907.2:c.320+85_320+86del	NP_003898.2:n.320+85_320+86del
XR_924208.1:n.1271+85_1271+86del
NM_003907.3:c.320+85_320+86del MANE Select	NP_003898.2:n.320+85_320+86del
XM_011513266.3:c.-582+85_-582+86del	XP_011511568.1:n.-582+85_-582+86del
XR_001740352.2:n.683+85_683+86del
XR_001740353.2:n.683+85_683+86del
XR_924208.2:n.683+85_683+86del