Canonical Allele Identifier: CA2570749890

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138104_184138108del , CM000665.2:g.184138104_184138108del	GRCh38
NC_000003.11:g.183855892_183855896del , CM000665.1:g.183855892_183855896del	GRCh37
NC_000003.10:g.185338586_185338590del	NCBI36
NG_015826.1:g.8083_8087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.707+29_707+33del
ENST00000468748.7:n.667+29_667+33del
ENST00000484154.2:n.1305+29_1305+33del
ENST00000491008.6:n.1432+29_1432+33del
ENST00000492226.2:n.681+29_681+33del
ENST00000492773.6:c.416+29_416+33del
ENST00000647636.1:c.684+29_684+33del	ENSP00000497505.1:n.684+29_684+33del
ENST00000647909.1:c.708+29_708+33del	ENSP00000498164.1:n.708+29_708+33del
ENST00000648145.1:c.452+29_452+33del
ENST00000648189.1:c.434+29_434+33del
ENST00000648256.1:c.633+29_633+33del	ENSP00000497356.1:n.633+29_633+33del
ENST00000648314.1:c.684+29_684+33del	ENSP00000496920.1:n.684+29_684+33del
ENST00000648599.1:c.684+29_684+33del	ENSP00000497159.1:n.684+29_684+33del
ENST00000648630.1:c.678+29_678+33del	ENSP00000497887.1:n.678+29_678+33del
ENST00000648682.1:c.684+29_684+33del	ENSP00000498185.1:n.684+29_684+33del
ENST00000648882.1:c.*510+29_*510+33del	ENSP00000497603.1:n.*510+29_*510+33del
ENST00000648890.1:c.684+29_684+33del	ENSP00000497503.1:n.684+29_684+33del
ENST00000648915.2:c.684+29_684+33del MANE Select	ENSP00000497160.1:n.684+29_684+33del
ENST00000649545.1:c.418+29_418+33del
ENST00000649688.1:c.684+29_684+33del	ENSP00000497097.1:n.684+29_684+33del
ENST00000649814.1:n.733+29_733+33del
ENST00000650270.1:c.551+29_551+33del
ENST00000273783.7:c.684+29_684+33del	ENSP00000273783.3:n.684+29_684+33del
ENST00000432982.5:c.245+1429_245+1433del
ENST00000444495.1:c.684+29_684+33del	ENSP00000409142.1:n.684+29_684+33del
ENST00000468748.5:n.137+29_137+33del
ENST00000481054.5:n.685+29_685+33del
ENST00000491008.5:n.648+29_648+33del
ENST00000491144.5:n.1124+29_1124+33del
NM_003907.2:c.684+29_684+33del	NP_003898.2:n.684+29_684+33del
XR_924208.1:n.1635+29_1635+33del
NM_003907.3:c.684+29_684+33del MANE Select	NP_003898.2:n.684+29_684+33del
XM_011513266.3:c.-218+29_-218+33del	XP_011511568.1:n.-218+29_-218+33del
XR_001740352.2:n.1047+29_1047+33del
XR_001740353.2:n.1047+29_1047+33del
XR_924208.2:n.1047+29_1047+33del