Canonical Allele Identifier: CA2668795751

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184136798-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136800_184136801del , CM000665.2:g.184136800_184136801del	GRCh38
NC_000003.11:g.183854588_183854589del , CM000665.1:g.183854588_183854589del	GRCh37
NC_000003.10:g.185337282_185337283del	NCBI36
NG_015826.1:g.6779_6780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*60_*61del	ENSP00000414775.1:n.*60_*61del
ENST00000465218.3:n.343+64_343+65del
ENST00000468748.7:n.303+64_303+65del
ENST00000471832.2:c.*378_*379del	ENSP00000497786.1:n.*378_*379del
ENST00000484154.2:n.122_123del
ENST00000491008.6:n.249_250del
ENST00000492226.2:n.317+64_317+65del
ENST00000492773.6:c.52+64_52+65del
ENST00000647636.1:c.320+64_320+65del	ENSP00000497505.1:n.320+64_320+65del
ENST00000647909.1:c.320+64_320+65del	ENSP00000498164.1:n.320+64_320+65del
ENST00000648145.1:c.88+64_88+65del
ENST00000648189.1:c.70+64_70+65del
ENST00000648256.1:c.269+64_269+65del	ENSP00000497356.1:n.269+64_269+65del
ENST00000648314.1:c.320+64_320+65del	ENSP00000496920.1:n.320+64_320+65del
ENST00000648599.1:c.320+64_320+65del	ENSP00000497159.1:n.320+64_320+65del
ENST00000648630.1:c.314+64_314+65del	ENSP00000497887.1:n.314+64_314+65del
ENST00000648682.1:c.320+64_320+65del	ENSP00000498185.1:n.320+64_320+65del
ENST00000648882.1:c.*146+64_*146+65del	ENSP00000497603.1:n.*146+64_*146+65del
ENST00000648890.1:c.320+64_320+65del	ENSP00000497503.1:n.320+64_320+65del
ENST00000648915.2:c.320+64_320+65del MANE Select	ENSP00000497160.1:n.320+64_320+65del
ENST00000649545.1:c.54+64_54+65del
ENST00000649688.1:c.320+64_320+65del	ENSP00000497097.1:n.320+64_320+65del
ENST00000649814.1:n.369+64_369+65del
ENST00000650244.1:c.465+64_465+65del	ENSP00000497227.1:n.465+64_465+65del
ENST00000650270.1:c.187+64_187+65del
ENST00000273783.7:c.320+64_320+65del	ENSP00000273783.3:n.320+64_320+65del
ENST00000432569.1:c.*60_*61del	ENSP00000414775.1:n.*60_*61del
ENST00000432982.5:c.245+125_245+126del
ENST00000444495.1:c.320+64_320+65del	ENSP00000409142.1:n.320+64_320+65del
ENST00000471832.1:n.315_316del
ENST00000481054.5:n.321+64_321+65del
ENST00000491144.5:n.668+64_668+65del
ENST00000498831.1:n.176+64_176+65del
NM_003907.2:c.320+64_320+65del	NP_003898.2:n.320+64_320+65del
XR_924208.1:n.1271+64_1271+65del
NM_003907.3:c.320+64_320+65del MANE Select	NP_003898.2:n.320+64_320+65del
XM_011513266.3:c.-582+64_-582+65del	XP_011511568.1:n.-582+64_-582+65del
XR_001740352.2:n.683+64_683+65del
XR_001740353.2:n.683+64_683+65del
XR_924208.2:n.683+64_683+65del