Canonical Allele Identifier: CA2668795812

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184136867-ATTTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136869_184136873del , CM000665.2:g.184136869_184136873del	GRCh38
NC_000003.11:g.183854657_183854661del , CM000665.1:g.183854657_183854661del	GRCh37
NC_000003.10:g.185337351_185337355del	NCBI36
NG_015826.1:g.6848_6852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*129_*133del	ENSP00000414775.1:n.*129_*133del
ENST00000465218.3:n.343+133_343+137del
ENST00000468748.7:n.303+133_303+137del
ENST00000471832.2:c.*447_*451del	ENSP00000497786.1:n.*447_*451del
ENST00000484154.2:n.191_195del
ENST00000491008.6:n.318_322del
ENST00000492226.2:n.317+133_317+137del
ENST00000492773.6:c.52+133_52+137del
ENST00000647636.1:c.320+133_320+137del	ENSP00000497505.1:n.320+133_320+137del
ENST00000647909.1:c.320+133_320+137del	ENSP00000498164.1:n.320+133_320+137del
ENST00000648145.1:c.88+133_88+137del
ENST00000648189.1:c.70+133_70+137del
ENST00000648256.1:c.269+133_269+137del	ENSP00000497356.1:n.269+133_269+137del
ENST00000648314.1:c.320+133_320+137del	ENSP00000496920.1:n.320+133_320+137del
ENST00000648599.1:c.320+133_320+137del	ENSP00000497159.1:n.320+133_320+137del
ENST00000648630.1:c.314+133_314+137del	ENSP00000497887.1:n.314+133_314+137del
ENST00000648682.1:c.320+133_320+137del	ENSP00000498185.1:n.320+133_320+137del
ENST00000648882.1:c.*146+133_*146+137del	ENSP00000497603.1:n.*146+133_*146+137del
ENST00000648890.1:c.320+133_320+137del	ENSP00000497503.1:n.320+133_320+137del
ENST00000648915.2:c.320+133_320+137del MANE Select	ENSP00000497160.1:n.320+133_320+137del
ENST00000649545.1:c.54+133_54+137del
ENST00000649688.1:c.320+133_320+137del	ENSP00000497097.1:n.320+133_320+137del
ENST00000649814.1:n.369+133_369+137del
ENST00000650244.1:c.465+133_465+137del	ENSP00000497227.1:n.465+133_465+137del
ENST00000650270.1:c.187+133_187+137del
ENST00000273783.7:c.320+133_320+137del	ENSP00000273783.3:n.320+133_320+137del
ENST00000432569.1:c.*129_*133del	ENSP00000414775.1:n.*129_*133del
ENST00000432982.5:c.245+194_245+198del
ENST00000444495.1:c.320+133_320+137del	ENSP00000409142.1:n.320+133_320+137del
ENST00000471832.1:n.384_388del
ENST00000481054.5:n.321+133_321+137del
ENST00000491144.5:n.668+133_668+137del
ENST00000498831.1:n.176+133_176+137del
NM_003907.2:c.320+133_320+137del	NP_003898.2:n.320+133_320+137del
XR_924208.1:n.1271+133_1271+137del
NM_003907.3:c.320+133_320+137del MANE Select	NP_003898.2:n.320+133_320+137del
XM_011513266.3:c.-582+133_-582+137del	XP_011511568.1:n.-582+133_-582+137del
XR_001740352.2:n.683+133_683+137del
XR_001740353.2:n.683+133_683+137del
XR_924208.2:n.683+133_683+137del