Canonical Allele Identifier: CA2541336539

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138095_184138096insGCCGTAT , CM000665.2:g.184138095_184138096insGCCGTAT	GRCh38
NC_000003.11:g.183855883_183855884insGCCGTAT , CM000665.1:g.183855883_183855884insGCCGTAT	GRCh37
NC_000003.10:g.185338577_185338578insGCCGTAT	NCBI36
NG_015826.1:g.8074_8075insGCCGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.707+20_707+21insGCCGTAT
ENST00000468748.7:n.667+20_667+21insGCCGTAT
ENST00000484154.2:n.1305+20_1305+21insGCCGTAT
ENST00000491008.6:n.1432+20_1432+21insGCCGTAT
ENST00000492226.2:n.681+20_681+21insGCCGTAT
ENST00000492773.6:c.416+20_416+21insGCCGTAT
ENST00000647636.1:c.684+20_684+21insGCCGTAT	ENSP00000497505.1:n.684+20_684+21insGCCGTAT
ENST00000647909.1:c.708+20_708+21insGCCGTAT	ENSP00000498164.1:n.708+20_708+21insGCCGTAT
ENST00000648145.1:c.452+20_452+21insGCCGTAT
ENST00000648189.1:c.434+20_434+21insGCCGTAT
ENST00000648256.1:c.633+20_633+21insGCCGTAT	ENSP00000497356.1:n.633+20_633+21insGCCGTAT
ENST00000648314.1:c.684+20_684+21insGCCGTAT	ENSP00000496920.1:n.684+20_684+21insGCCGTAT
ENST00000648599.1:c.684+20_684+21insGCCGTAT	ENSP00000497159.1:n.684+20_684+21insGCCGTAT
ENST00000648630.1:c.678+20_678+21insGCCGTAT	ENSP00000497887.1:n.678+20_678+21insGCCGTAT
ENST00000648682.1:c.684+20_684+21insGCCGTAT	ENSP00000498185.1:n.684+20_684+21insGCCGTAT
ENST00000648882.1:c.*510+20_*510+21insGCCGTAT	ENSP00000497603.1:n.*510+20_*510+21insGCCGTAT
ENST00000648890.1:c.684+20_684+21insGCCGTAT	ENSP00000497503.1:n.684+20_684+21insGCCGTAT
ENST00000648915.2:c.684+20_684+21insGCCGTAT MANE Select	ENSP00000497160.1:n.684+20_684+21insGCCGTAT
ENST00000649545.1:c.418+20_418+21insGCCGTAT
ENST00000649688.1:c.684+20_684+21insGCCGTAT	ENSP00000497097.1:n.684+20_684+21insGCCGTAT
ENST00000649814.1:n.733+20_733+21insGCCGTAT
ENST00000650270.1:c.551+20_551+21insGCCGTAT
ENST00000273783.7:c.684+20_684+21insGCCGTAT	ENSP00000273783.3:n.684+20_684+21insGCCGTAT
ENST00000432982.5:c.245+1420_245+1421insGCCGTAT
ENST00000444495.1:c.684+20_684+21insGCCGTAT	ENSP00000409142.1:n.684+20_684+21insGCCGTAT
ENST00000468748.5:n.137+20_137+21insGCCGTAT
ENST00000481054.5:n.685+20_685+21insGCCGTAT
ENST00000491008.5:n.648+20_648+21insGCCGTAT
ENST00000491144.5:n.1124+20_1124+21insGCCGTAT
NM_003907.2:c.684+20_684+21insGCCGTAT	NP_003898.2:n.684+20_684+21insGCCGTAT
XR_924208.1:n.1635+20_1635+21insGCCGTAT
NM_003907.3:c.684+20_684+21insGCCGTAT MANE Select	NP_003898.2:n.684+20_684+21insGCCGTAT
XM_011513266.3:c.-218+20_-218+21insGCCGTAT	XP_011511568.1:n.-218+20_-218+21insGCCGTAT
XR_001740352.2:n.1047+20_1047+21insGCCGTAT
XR_001740353.2:n.1047+20_1047+21insGCCGTAT
XR_924208.2:n.1047+20_1047+21insGCCGTAT