Canonical Allele Identifier: CA88840290

Gene: EIF2B5

Linked Data

• dbSNP Id: rs932110011
• gnomAD v2: 3-183854722-CAAAGATT-C
• gnomAD v3: 3-184136934-CAAAGATT-C
• gnomAD v4: 3-184136934-CAAAGATT-C
• MyVariant Identifiers: chr3:g.183854723_183854729del (hg19) ; chr3:g.184136935_184136941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136940_184136946del , CM000665.2:g.184136940_184136946del	GRCh38
NC_000003.11:g.183854728_183854734del , CM000665.1:g.183854728_183854734del	GRCh37
NC_000003.10:g.185337422_185337428del	NCBI36
NG_015826.1:g.6919_6925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*200_*206del	ENSP00000414775.1:n.*200_*206del
ENST00000465218.3:n.343+204_343+210del
ENST00000468748.7:n.303+204_303+210del
ENST00000471832.2:c.*518_*524del	ENSP00000497786.1:n.*518_*524del
ENST00000484154.2:n.262_268del
ENST00000491008.6:n.389_395del
ENST00000492226.2:n.317+204_317+210del
ENST00000492773.6:c.52+204_52+210del
ENST00000647636.1:c.320+204_320+210del	ENSP00000497505.1:n.320+204_320+210del
ENST00000647909.1:c.320+204_320+210del	ENSP00000498164.1:n.320+204_320+210del
ENST00000648145.1:c.88+204_88+210del
ENST00000648189.1:c.70+204_70+210del
ENST00000648256.1:c.269+204_269+210del	ENSP00000497356.1:n.269+204_269+210del
ENST00000648314.1:c.320+204_320+210del	ENSP00000496920.1:n.320+204_320+210del
ENST00000648599.1:c.320+204_320+210del	ENSP00000497159.1:n.320+204_320+210del
ENST00000648630.1:c.314+204_314+210del	ENSP00000497887.1:n.314+204_314+210del
ENST00000648682.1:c.320+204_320+210del	ENSP00000498185.1:n.320+204_320+210del
ENST00000648882.1:c.*146+204_*146+210del	ENSP00000497603.1:n.*146+204_*146+210del
ENST00000648890.1:c.320+204_320+210del	ENSP00000497503.1:n.320+204_320+210del
ENST00000648915.2:c.320+204_320+210del MANE Select	ENSP00000497160.1:n.320+204_320+210del
ENST00000649545.1:c.54+204_54+210del
ENST00000649688.1:c.320+204_320+210del	ENSP00000497097.1:n.320+204_320+210del
ENST00000649814.1:n.369+204_369+210del
ENST00000650244.1:c.465+204_465+210del	ENSP00000497227.1:n.465+204_465+210del
ENST00000650270.1:c.187+204_187+210del
ENST00000273783.7:c.320+204_320+210del	ENSP00000273783.3:n.320+204_320+210del
ENST00000432569.1:c.*200_*206del	ENSP00000414775.1:n.*200_*206del
ENST00000432982.5:c.245+265_245+271del
ENST00000444495.1:c.320+204_320+210del	ENSP00000409142.1:n.320+204_320+210del
ENST00000471832.1:n.455_461del
ENST00000481054.5:n.321+204_321+210del
ENST00000491144.5:n.668+204_668+210del
ENST00000498831.1:n.176+204_176+210del
NM_003907.2:c.320+204_320+210del	NP_003898.2:n.320+204_320+210del
XR_924208.1:n.1271+204_1271+210del
NM_003907.3:c.320+204_320+210del MANE Select	NP_003898.2:n.320+204_320+210del
XM_011513266.3:c.-582+204_-582+210del	XP_011511568.1:n.-582+204_-582+210del
XR_001740352.2:n.683+204_683+210del
XR_001740353.2:n.683+204_683+210del
XR_924208.2:n.683+204_683+210del