Canonical Allele Identifier: CA1425882885

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137934_184137936delinsGAC , CM000665.2:g.184137934_184137936delinsGAC	GRCh38
NC_000003.11:g.183855722_183855724delinsGAC , CM000665.1:g.183855722_183855724delinsGAC	GRCh37
NC_000003.10:g.185338416_185338418delinsGAC	NCBI36
NG_015826.1:g.7913_7915delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.566_568delinsGAC
ENST00000468748.7:n.526_528delinsGAC
ENST00000484154.2:n.1164_1166delinsGAC
ENST00000491008.6:n.1291_1293delinsGAC
ENST00000492226.2:n.540_542delinsGAC
ENST00000492773.6:c.275_277delinsGAC
ENST00000647636.1:c.543_545delinsGAC	ENSP00000497505.1:p.Met181=
ENST00000647909.1:c.567_569delinsGAC	ENSP00000498164.1:p.Met189=
ENST00000648145.1:c.311_313delinsGAC
ENST00000648189.1:c.293_295delinsGAC
ENST00000648256.1:c.492_494delinsGAC	ENSP00000497356.1:p.Met164=
ENST00000648314.1:c.543_545delinsGAC	ENSP00000496920.1:p.Met181=
ENST00000648599.1:c.543_545delinsGAC	ENSP00000497159.1:p.Met181=
ENST00000648630.1:c.537_539delinsGAC	ENSP00000497887.1:p.Met179=
ENST00000648682.1:c.543_545delinsGAC	ENSP00000498185.1:p.Met181=
ENST00000648882.1:c.*369_*371delinsGAC	ENSP00000497603.1:n.*369_*371delinsGAC
ENST00000648890.1:c.543_545delinsGAC	ENSP00000497503.1:p.Met181=
ENST00000648915.2:c.543_545delinsGAC MANE Select	ENSP00000497160.1:p.Met181=
ENST00000649545.1:c.277_279delinsGAC
ENST00000649688.1:c.543_545delinsGAC	ENSP00000497097.1:p.Met181=
ENST00000649814.1:n.592_594delinsGAC
ENST00000650244.1:c.688_690delinsGAC	ENSP00000497227.1:n.688_690delinsGAC
ENST00000650270.1:c.410_412delinsGAC
ENST00000273783.7:c.543_545delinsGAC	ENSP00000273783.3:p.Met181=
ENST00000432982.5:c.245+1259_245+1261delinsGAC
ENST00000444495.1:c.543_545delinsGAC	ENSP00000409142.1:p.Met181=
ENST00000481054.5:n.544_546delinsGAC
ENST00000491008.5:n.507_509delinsGAC
ENST00000491144.5:n.983_985delinsGAC
ENST00000498831.1:n.498_500delinsGAC
NM_003907.2:c.543_545delinsGAC	NP_003898.2:p.Met181=
XR_924208.1:n.1494_1496delinsGAC
NM_003907.3:c.543_545delinsGAC MANE Select	NP_003898.2:p.Met181=
XM_011513266.3:c.-359_-357delinsGAC	XP_011511568.1:n.-359_-357delinsGAC
XR_001740352.2:n.906_908delinsGAC
XR_001740353.2:n.906_908delinsGAC
XR_924208.2:n.906_908delinsGAC