Canonical Allele Identifier: CA1425882738

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137799_184137801delinsAAC , CM000665.2:g.184137799_184137801delinsAAC	GRCh38
NC_000003.11:g.183855587_183855589delinsAAC , CM000665.1:g.183855587_183855589delinsAAC	GRCh37
NC_000003.10:g.185338281_185338283delinsAAC	NCBI36
NG_015826.1:g.7778_7780delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.523_525delinsAAC
ENST00000468748.7:n.483_485delinsAAC
ENST00000484154.2:n.1121_1123delinsAAC
ENST00000491008.6:n.1248_1250delinsAAC
ENST00000492226.2:n.497_499delinsAAC
ENST00000492773.6:c.232_234delinsAAC
ENST00000647636.1:c.500_502delinsAAC	ENSP00000497505.1:p.Glu167=
ENST00000647909.1:c.500_502delinsAAC	ENSP00000498164.1:p.Glu167=
ENST00000648145.1:c.268_270delinsAAC
ENST00000648189.1:c.250_252delinsAAC
ENST00000648256.1:c.449_451delinsAAC	ENSP00000497356.1:p.Glu150=
ENST00000648314.1:c.500_502delinsAAC	ENSP00000496920.1:p.Glu167=
ENST00000648599.1:c.500_502delinsAAC	ENSP00000497159.1:p.Glu167=
ENST00000648630.1:c.494_496delinsAAC	ENSP00000497887.1:p.Glu165=
ENST00000648682.1:c.500_502delinsAAC	ENSP00000498185.1:p.Glu167=
ENST00000648882.1:c.*326_*328delinsAAC	ENSP00000497603.1:n.*326_*328delinsAAC
ENST00000648890.1:c.500_502delinsAAC	ENSP00000497503.1:p.Glu167=
ENST00000648915.2:c.500_502delinsAAC MANE Select	ENSP00000497160.1:p.Glu167=
ENST00000649545.1:c.234_236delinsAAC
ENST00000649688.1:c.500_502delinsAAC	ENSP00000497097.1:p.Glu167=
ENST00000649814.1:n.549_551delinsAAC
ENST00000650244.1:c.645_647delinsAAC	ENSP00000497227.1:n.645_647delinsAAC
ENST00000650270.1:c.367_369delinsAAC
ENST00000273783.7:c.500_502delinsAAC	ENSP00000273783.3:p.Glu167=
ENST00000432982.5:c.245+1124_245+1126delinsAAC
ENST00000444495.1:c.500_502delinsAAC	ENSP00000409142.1:p.Glu167=
ENST00000481054.5:n.501_503delinsAAC
ENST00000491008.5:n.464_466delinsAAC
ENST00000491144.5:n.848_850delinsAAC
ENST00000498831.1:n.455_457delinsAAC
NM_003907.2:c.500_502delinsAAC	NP_003898.2:p.Glu167=
XR_924208.1:n.1451_1453delinsAAC
NM_003907.3:c.500_502delinsAAC MANE Select	NP_003898.2:p.Glu167=
XM_011513266.3:c.-402_-400delinsAAC	XP_011511568.1:n.-402_-400delinsAAC
XR_001740352.2:n.863_865delinsAAC
XR_001740353.2:n.863_865delinsAAC
XR_924208.2:n.863_865delinsAAC