Canonical Allele Identifier: CA355382458

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1302316744
• gnomAD v2: 3-183855842-C-CCGG
• gnomAD v3: 3-184138054-C-CCGG
• gnomAD v4: 3-184138054-C-CCGG
• MyVariant Identifiers: chr3:g.183855842_183855843insCGG (hg19) ; chr3:g.184138054_184138055insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138057_184138059dup , CM000665.2:g.184138057_184138059dup	GRCh38
NC_000003.11:g.183855845_183855847dup , CM000665.1:g.183855845_183855847dup	GRCh37
NC_000003.10:g.185338539_185338541dup	NCBI36
NG_015826.1:g.8036_8038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.689_691dup
ENST00000468748.7:n.649_651dup
ENST00000484154.2:n.1287_1289dup
ENST00000491008.6:n.1414_1416dup
ENST00000492226.2:n.663_665dup
ENST00000492773.6:c.398_400dup
ENST00000647636.1:c.666_668dup	ENSP00000497505.1:p.Arg223_Phe224insArg
ENST00000647909.1:c.690_692dup	ENSP00000498164.1:p.Arg231_Phe232insArg
ENST00000648145.1:c.434_436dup
ENST00000648189.1:c.416_418dup
ENST00000648256.1:c.615_617dup	ENSP00000497356.1:p.Arg206_Phe207insArg
ENST00000648314.1:c.666_668dup	ENSP00000496920.1:p.Arg223_Phe224insArg
ENST00000648599.1:c.666_668dup	ENSP00000497159.1:p.Arg223_Phe224insArg
ENST00000648630.1:c.660_662dup	ENSP00000497887.1:p.Arg221_Phe222insArg
ENST00000648682.1:c.666_668dup	ENSP00000498185.1:p.Arg223_Phe224insArg
ENST00000648882.1:c.*492_*494dup	ENSP00000497603.1:n.*492_*494dup
ENST00000648890.1:c.666_668dup	ENSP00000497503.1:p.Arg223_Phe224insArg
ENST00000648915.2:c.666_668dup MANE Select	ENSP00000497160.1:p.Arg223_Phe224insArg
ENST00000649545.1:c.400_402dup
ENST00000649688.1:c.666_668dup	ENSP00000497097.1:p.Arg223_Phe224insArg
ENST00000649814.1:n.715_717dup
ENST00000650270.1:c.533_535dup
ENST00000273783.7:c.666_668dup	ENSP00000273783.3:p.Arg223_Phe224insArg
ENST00000432982.5:c.245+1382_245+1384dup
ENST00000444495.1:c.666_668dup	ENSP00000409142.1:p.Arg223_Phe224insArg
ENST00000468748.5:n.119_121dup
ENST00000481054.5:n.667_669dup
ENST00000491008.5:n.630_632dup
ENST00000491144.5:n.1106_1108dup
NM_003907.2:c.666_668dup	NP_003898.2:p.Arg223_Phe224insArg
XR_924208.1:n.1617_1619dup
NM_003907.3:c.666_668dup MANE Select	NP_003898.2:p.Arg223_Phe224insArg
XM_011513266.3:c.-236_-234dup	XP_011511568.1:n.-236_-234dup
XR_001740352.2:n.1029_1031dup
XR_001740353.2:n.1029_1031dup
XR_924208.2:n.1029_1031dup