Canonical Allele Identifier: CA2555114954

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137581_184137582insAACTATAATGAATGCTTT , CM000665.2:g.184137581_184137582insAACTATAATGAATGCTTT	GRCh38
NC_000003.11:g.183855369_183855370insAACTATAATGAATGCTTT , CM000665.1:g.183855369_183855370insAACTATAATGAATGCTTT	GRCh37
NC_000003.10:g.185338063_185338064insAACTATAATGAATGCTTT	NCBI36
NG_015826.1:g.7560_7561insAACTATAATGAATGCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-39_344-38insAACTATAATGAATGCTTT
ENST00000468748.7:n.304-39_304-38insAACTATAATGAATGCTTT
ENST00000484154.2:n.903_904insAACTATAATGAATGCTTT
ENST00000491008.6:n.1030_1031insAACTATAATGAATGCTTT
ENST00000492226.2:n.318-39_318-38insAACTATAATGAATGCTTT
ENST00000492773.6:c.53-39_53-38insAACTATAATGAATGCTTT
ENST00000647636.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000497505.1:n.321-39_321-38insAACTA...
ENST00000647909.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000498164.1:n.321-39_321-38insAACTA...
ENST00000648145.1:c.89-39_89-38insAACTATAATGAATGCTTT
ENST00000648189.1:c.71-39_71-38insAACTATAATGAATGCTTT
ENST00000648256.1:c.270-39_270-38insAACTATAATGAATGCTTT	ENSP00000497356.1:n.270-39_270-38insAACTA...
ENST00000648314.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000496920.1:n.321-39_321-38insAACTA...
ENST00000648599.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000497159.1:n.321-39_321-38insAACTA...
ENST00000648630.1:c.315-39_315-38insAACTATAATGAATGCTTT	ENSP00000497887.1:n.315-39_315-38insAACTA...
ENST00000648682.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000498185.1:n.321-39_321-38insAACTA...
ENST00000648882.1:c.*147-39_*147-38insAACTATAATGAATGCTTT	ENSP00000497603.1:n.*147-39_*147-38insAAC...
ENST00000648890.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000497503.1:n.321-39_321-38insAACTA...
ENST00000648915.2:c.321-39_321-38insAACTATAATGAATGCTTT MANE Select	ENSP00000497160.1:n.321-39_321-38insAACTA...
ENST00000649545.1:c.55-39_55-38insAACTATAATGAATGCTTT
ENST00000649688.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000497097.1:n.321-39_321-38insAACTA...
ENST00000649814.1:n.370-39_370-38insAACTATAATGAATGCTTT
ENST00000650244.1:c.466-39_466-38insAACTATAATGAATGCTTT	ENSP00000497227.1:n.466-39_466-38insAACTA...
ENST00000650270.1:c.188-39_188-38insAACTATAATGAATGCTTT
ENST00000273783.7:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000273783.3:n.321-39_321-38insAACTA...
ENST00000432982.5:c.245+906_245+907insAACTATAATGAATGCTTT
ENST00000444495.1:c.321-39_321-38insAACTATAATGAATGCTTT	ENSP00000409142.1:n.321-39_321-38insAACTA...
ENST00000481054.5:n.322-39_322-38insAACTATAATGAATGCTTT
ENST00000491008.5:n.246_247insAACTATAATGAATGCTTT
ENST00000491144.5:n.669-39_669-38insAACTATAATGAATGCTTT
ENST00000498831.1:n.276-39_276-38insAACTATAATGAATGCTTT
NM_003907.2:c.321-39_321-38insAACTATAATGAATGCTTT	NP_003898.2:n.321-39_321-38insAACTATAATGA...
XR_924208.1:n.1272-39_1272-38insAACTATAATGAATGCTTT
NM_003907.3:c.321-39_321-38insAACTATAATGAATGCTTT MANE Select	NP_003898.2:n.321-39_321-38insAACTATAATGA...
XM_011513266.3:c.-581-39_-581-38insAACTATAATGAATGCTTT	XP_011511568.1:n.-581-39_-581-38insAACTAT...
XR_001740352.2:n.684-39_684-38insAACTATAATGAATGCTTT
XR_001740353.2:n.684-39_684-38insAACTATAATGAATGCTTT
XR_924208.2:n.684-39_684-38insAACTATAATGAATGCTTT