Canonical Allele Identifier: CA2668796685

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138192-A-AGTGGAGGTTCGATATGATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138193_184138212dup , CM000665.2:g.184138193_184138212dup	GRCh38
NC_000003.11:g.183855981_183856000dup , CM000665.1:g.183855981_183856000dup	GRCh37
NC_000003.10:g.185338675_185338694dup	NCBI36
NG_015826.1:g.8172_8191dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.735_754dup
ENST00000468748.7:n.695_714dup
ENST00000484154.2:n.1333_1352dup
ENST00000491008.6:n.1460_1479dup
ENST00000492226.2:n.709_728dup
ENST00000492773.6:c.466_485dup
ENST00000647636.1:c.712_731dup	ENSP00000497505.1:p.Leu245TrpfsTer?
ENST00000647909.1:c.736_755dup	ENSP00000498164.1:p.Leu253TrpfsTer?
ENST00000648145.1:c.480_499dup
ENST00000648189.1:c.462_481dup
ENST00000648256.1:c.661_680dup	ENSP00000497356.1:p.Leu228TrpfsTer35
ENST00000648314.1:c.712_731dup	ENSP00000496920.1:p.Leu245TrpfsTer?
ENST00000648599.1:c.712_731dup	ENSP00000497159.1:p.Leu245TrpfsTer?
ENST00000648630.1:c.706_725dup	ENSP00000497887.1:p.Leu243TrpfsTer?
ENST00000648682.1:c.712_731dup	ENSP00000498185.1:p.Leu245TrpfsTer?
ENST00000648882.1:c.*538_*557dup	ENSP00000497603.1:n.*538_*557dup
ENST00000648890.1:c.712_731dup	ENSP00000497503.1:p.Leu245TrpfsTer?
ENST00000648915.2:c.712_731dup MANE Select	ENSP00000497160.1:p.Leu245TrpfsTer?
ENST00000649545.1:c.446_465dup
ENST00000649688.1:c.712_731dup	ENSP00000497097.1:p.Leu245TrpfsTer?
ENST00000649814.1:n.761_780dup
ENST00000650270.1:c.579_598dup
ENST00000273783.7:c.712_731dup	ENSP00000273783.3:p.Leu245TrpfsTer?
ENST00000432982.5:c.245+1518_245+1537dup
ENST00000444495.1:c.712_731dup	ENSP00000409142.1:p.Leu245TrpfsTer?
ENST00000468748.5:n.165_184dup
ENST00000479833.1:n.28_47dup
ENST00000481054.5:n.713_732dup
ENST00000491008.5:n.676_695dup
ENST00000491144.5:n.1152_1171dup
NM_003907.2:c.712_731dup	NP_003898.2:p.Leu245TrpfsTer?
XR_924208.1:n.1663_1682dup
NM_003907.3:c.712_731dup MANE Select	NP_003898.2:p.Leu245TrpfsTer?
XM_011513266.3:c.-190_-171dup	XP_011511568.1:n.-190_-171dup
XR_001740352.2:n.1075_1094dup
XR_001740353.2:n.1075_1094dup
XR_924208.2:n.1075_1094dup