Canonical Allele Identifier: CA1425882372

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137601_184137602delinsTC , CM000665.2:g.184137601_184137602delinsTC	GRCh38
NC_000003.11:g.183855389_183855390delinsTC , CM000665.1:g.183855389_183855390delinsTC	GRCh37
NC_000003.10:g.185338083_185338084delinsTC	NCBI36
NG_015826.1:g.7580_7581delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-19_344-18delinsTC
ENST00000468748.7:n.304-19_304-18delinsTC
ENST00000484154.2:n.923_924delinsTC
ENST00000491008.6:n.1050_1051delinsTC
ENST00000492226.2:n.318-19_318-18delinsTC
ENST00000492773.6:c.53-19_53-18delinsTC
ENST00000647636.1:c.321-19_321-18delinsTC	ENSP00000497505.1:n.321-19_321-18delinsTC...
ENST00000647909.1:c.321-19_321-18delinsTC	ENSP00000498164.1:n.321-19_321-18delinsTC...
ENST00000648145.1:c.89-19_89-18delinsTC
ENST00000648189.1:c.71-19_71-18delinsTC
ENST00000648256.1:c.270-19_270-18delinsTC	ENSP00000497356.1:n.270-19_270-18delinsTC...
ENST00000648314.1:c.321-19_321-18delinsTC	ENSP00000496920.1:n.321-19_321-18delinsTC...
ENST00000648599.1:c.321-19_321-18delinsTC	ENSP00000497159.1:n.321-19_321-18delinsTC...
ENST00000648630.1:c.315-19_315-18delinsTC	ENSP00000497887.1:n.315-19_315-18delinsTC...
ENST00000648682.1:c.321-19_321-18delinsTC	ENSP00000498185.1:n.321-19_321-18delinsTC...
ENST00000648882.1:c.*147-19_*147-18delinsTC	ENSP00000497603.1:n.*147-19_*147-18delins...
ENST00000648890.1:c.321-19_321-18delinsTC	ENSP00000497503.1:n.321-19_321-18delinsTC...
ENST00000648915.2:c.321-19_321-18delinsTC MANE Select	ENSP00000497160.1:n.321-19_321-18delinsTC...
ENST00000649545.1:c.55-19_55-18delinsTC
ENST00000649688.1:c.321-19_321-18delinsTC	ENSP00000497097.1:n.321-19_321-18delinsTC...
ENST00000649814.1:n.370-19_370-18delinsTC
ENST00000650244.1:c.466-19_466-18delinsTC	ENSP00000497227.1:n.466-19_466-18delinsTC...
ENST00000650270.1:c.188-19_188-18delinsTC
ENST00000273783.7:c.321-19_321-18delinsTC	ENSP00000273783.3:n.321-19_321-18delinsTC...
ENST00000432982.5:c.245+926_245+927delinsTC
ENST00000444495.1:c.321-19_321-18delinsTC	ENSP00000409142.1:n.321-19_321-18delinsTC...
ENST00000481054.5:n.322-19_322-18delinsTC
ENST00000491008.5:n.266_267delinsTC
ENST00000491144.5:n.669-19_669-18delinsTC
ENST00000498831.1:n.276-19_276-18delinsTC
NM_003907.2:c.321-19_321-18delinsTC	NP_003898.2:n.321-19_321-18delinsTC
XR_924208.1:n.1272-19_1272-18delinsTC
NM_003907.3:c.321-19_321-18delinsTC MANE Select	NP_003898.2:n.321-19_321-18delinsTC
XM_011513266.3:c.-581-19_-581-18delinsTC	XP_011511568.1:n.-581-19_-581-18delinsTC
XR_001740352.2:n.684-19_684-18delinsTC
XR_001740353.2:n.684-19_684-18delinsTC
XR_924208.2:n.684-19_684-18delinsTC