Canonical Allele Identifier: CA2668795811

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184136867-A-AGAAAATACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136867_184136868insGAAAATACCC , CM000665.2:g.184136867_184136868insGAAAATACCC	GRCh38
NC_000003.11:g.183854655_183854656insGAAAATACCC , CM000665.1:g.183854655_183854656insGAAAATACCC	GRCh37
NC_000003.10:g.185337349_185337350insGAAAATACCC	NCBI36
NG_015826.1:g.6846_6847insGAAAATACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*127_*128insGAAAATACCC	ENSP00000414775.1:n.*127_*128insGAAAATACCC
ENST00000465218.3:n.343+131_343+132insGAAAATACCC
ENST00000468748.7:n.303+131_303+132insGAAAATACCC
ENST00000471832.2:c.*445_*446insGAAAATACCC	ENSP00000497786.1:n.*445_*446insGAAAATACCC
ENST00000484154.2:n.189_190insGAAAATACCC
ENST00000491008.6:n.316_317insGAAAATACCC
ENST00000492226.2:n.317+131_317+132insGAAAATACCC
ENST00000492773.6:c.52+131_52+132insGAAAATACCC
ENST00000647636.1:c.320+131_320+132insGAAAATACCC	ENSP00000497505.1:n.320+131_320+132insGAAAATACCC
ENST00000647909.1:c.320+131_320+132insGAAAATACCC	ENSP00000498164.1:n.320+131_320+132insGAAAATACCC
ENST00000648145.1:c.88+131_88+132insGAAAATACCC
ENST00000648189.1:c.70+131_70+132insGAAAATACCC
ENST00000648256.1:c.269+131_269+132insGAAAATACCC	ENSP00000497356.1:n.269+131_269+132insGAAAATACCC
ENST00000648314.1:c.320+131_320+132insGAAAATACCC	ENSP00000496920.1:n.320+131_320+132insGAAAATACCC
ENST00000648599.1:c.320+131_320+132insGAAAATACCC	ENSP00000497159.1:n.320+131_320+132insGAAAATACCC
ENST00000648630.1:c.314+131_314+132insGAAAATACCC	ENSP00000497887.1:n.314+131_314+132insGAAAATACCC
ENST00000648682.1:c.320+131_320+132insGAAAATACCC	ENSP00000498185.1:n.320+131_320+132insGAAAATACCC
ENST00000648882.1:c.*146+131_*146+132insGAAAATACCC	ENSP00000497603.1:n.*146+131_*146+132insGAAAATACCC
ENST00000648890.1:c.320+131_320+132insGAAAATACCC	ENSP00000497503.1:n.320+131_320+132insGAAAATACCC
ENST00000648915.2:c.320+131_320+132insGAAAATACCC MANE Select	ENSP00000497160.1:n.320+131_320+132insGAAAATACCC
ENST00000649545.1:c.54+131_54+132insGAAAATACCC
ENST00000649688.1:c.320+131_320+132insGAAAATACCC	ENSP00000497097.1:n.320+131_320+132insGAAAATACCC
ENST00000649814.1:n.369+131_369+132insGAAAATACCC
ENST00000650244.1:c.465+131_465+132insGAAAATACCC	ENSP00000497227.1:n.465+131_465+132insGAAAATACCC
ENST00000650270.1:c.187+131_187+132insGAAAATACCC
ENST00000273783.7:c.320+131_320+132insGAAAATACCC	ENSP00000273783.3:n.320+131_320+132insGAAAATACCC
ENST00000432569.1:c.*127_*128insGAAAATACCC	ENSP00000414775.1:n.*127_*128insGAAAATACCC
ENST00000432982.5:c.245+192_245+193insGAAAATACCC
ENST00000444495.1:c.320+131_320+132insGAAAATACCC	ENSP00000409142.1:n.320+131_320+132insGAAAATACCC
ENST00000471832.1:n.382_383insGAAAATACCC
ENST00000481054.5:n.321+131_321+132insGAAAATACCC
ENST00000491144.5:n.668+131_668+132insGAAAATACCC
ENST00000498831.1:n.176+131_176+132insGAAAATACCC
NM_003907.2:c.320+131_320+132insGAAAATACCC	NP_003898.2:n.320+131_320+132insGAAAATACCC
XR_924208.1:n.1271+131_1271+132insGAAAATACCC
NM_003907.3:c.320+131_320+132insGAAAATACCC MANE Select	NP_003898.2:n.320+131_320+132insGAAAATACCC
XM_011513266.3:c.-582+131_-582+132insGAAAATACCC	XP_011511568.1:n.-582+131_-582+132insGAAAATACCC
XR_001740352.2:n.683+131_683+132insGAAAATACCC
XR_001740353.2:n.683+131_683+132insGAAAATACCC
XR_924208.2:n.683+131_683+132insGAAAATACCC