Canonical Allele Identifier: CA2545515282

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138175del , CM000665.2:g.184138175del	GRCh38
NC_000003.11:g.183855963del , CM000665.1:g.183855963del	GRCh37
NC_000003.10:g.185338657del	NCBI36
NG_015826.1:g.8154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.717del
ENST00000468748.7:n.677del
ENST00000484154.2:n.1315del
ENST00000491008.6:n.1442del
ENST00000492226.2:n.691del
ENST00000492773.6:c.448del
ENST00000647636.1:c.694del	ENSP00000497505.1:p.Gln232ArgfsTer?
ENST00000647909.1:c.718del	ENSP00000498164.1:p.Gln240ArgfsTer?
ENST00000648145.1:c.462del
ENST00000648189.1:c.444del
ENST00000648256.1:c.643del	ENSP00000497356.1:p.Gln215ArgfsTer?
ENST00000648314.1:c.694del	ENSP00000496920.1:p.Gln232ArgfsTer?
ENST00000648599.1:c.694del	ENSP00000497159.1:p.Gln232ArgfsTer?
ENST00000648630.1:c.688del	ENSP00000497887.1:p.Gln230ArgfsTer?
ENST00000648682.1:c.694del	ENSP00000498185.1:p.Gln232ArgfsTer?
ENST00000648882.1:c.*520del	ENSP00000497603.1:n.*520del
ENST00000648890.1:c.694del	ENSP00000497503.1:p.Gln232ArgfsTer?
ENST00000648915.2:c.694del MANE Select	ENSP00000497160.1:p.Gln232ArgfsTer?
ENST00000649545.1:c.428del
ENST00000649688.1:c.694del	ENSP00000497097.1:p.Gln232ArgfsTer?
ENST00000649814.1:n.743del
ENST00000650270.1:c.561del
ENST00000273783.7:c.694del	ENSP00000273783.3:p.Gln232ArgfsTer?
ENST00000432982.5:c.245+1500del
ENST00000444495.1:c.694del	ENSP00000409142.1:p.Gln232ArgfsTer?
ENST00000468748.5:n.147del
ENST00000479833.1:n.10del
ENST00000481054.5:n.695del
ENST00000491008.5:n.658del
ENST00000491144.5:n.1134del
NM_003907.2:c.694del	NP_003898.2:p.Gln232ArgfsTer?
XR_924208.1:n.1645del
NM_003907.3:c.694del MANE Select	NP_003898.2:p.Gln232ArgfsTer?
XM_011513266.3:c.-208del	XP_011511568.1:n.-208del
XR_001740352.2:n.1057del
XR_001740353.2:n.1057del
XR_924208.2:n.1057del