Canonical Allele Identifier: CA1425883081

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138105_184138116delinsGGGGAAGTGACA , CM000665.2:g.184138105_184138116delinsGGGGAAGTGACA	GRCh38
NC_000003.11:g.183855893_183855904delinsGGGGAAGTGACA , CM000665.1:g.183855893_183855904delinsGGGGAAGTGACA	GRCh37
NC_000003.10:g.185338587_185338598delinsGGGGAAGTGACA	NCBI36
NG_015826.1:g.8084_8095delinsGGGGAAGTGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.707+30_707+41delinsGGGGAAGTGACA
ENST00000468748.7:n.667+30_667+41delinsGGGGAAGTGACA
ENST00000484154.2:n.1305+30_1305+41delinsGGGGAAGTGACA
ENST00000491008.6:n.1432+30_1432+41delinsGGGGAAGTGACA
ENST00000492226.2:n.681+30_681+41delinsGGGGAAGTGACA
ENST00000492773.6:c.416+30_417-28delinsGGGGAAGTGACA
ENST00000647636.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000497505.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000647909.1:c.708+30_708+41delinsGGGGAAGTGACA	ENSP00000498164.1:n.708+30_708+41delinsGGGGAAGTGACA
ENST00000648145.1:c.452+30_452+41delinsGGGGAAGTGACA
ENST00000648189.1:c.434+30_434+41delinsGGGGAAGTGACA
ENST00000648256.1:c.633+30_633+41delinsGGGGAAGTGACA	ENSP00000497356.1:n.633+30_633+41delinsGGGGAAGTGACA
ENST00000648314.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000496920.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000648599.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000497159.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000648630.1:c.678+30_678+41delinsGGGGAAGTGACA	ENSP00000497887.1:n.678+30_678+41delinsGGGGAAGTGACA
ENST00000648682.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000498185.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000648882.1:c.*510+30_*510+41delinsGGGGAAGTGACA	ENSP00000497603.1:n.*510+30_*510+41delinsGGGGAAGTGACA
ENST00000648890.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000497503.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000648915.2:c.684+30_684+41delinsGGGGAAGTGACA MANE Select	ENSP00000497160.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000649545.1:c.418+30_418+41delinsGGGGAAGTGACA
ENST00000649688.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000497097.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000649814.1:n.733+30_733+41delinsGGGGAAGTGACA
ENST00000650270.1:c.551+30_551+41delinsGGGGAAGTGACA
ENST00000273783.7:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000273783.3:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000432982.5:c.245+1430_245+1441delinsGGGGAAGTGACA
ENST00000444495.1:c.684+30_684+41delinsGGGGAAGTGACA	ENSP00000409142.1:n.684+30_684+41delinsGGGGAAGTGACA
ENST00000468748.5:n.137+30_137+41delinsGGGGAAGTGACA
ENST00000481054.5:n.685+30_685+41delinsGGGGAAGTGACA
ENST00000491008.5:n.648+30_648+41delinsGGGGAAGTGACA
ENST00000491144.5:n.1124+30_1124+41delinsGGGGAAGTGACA
NM_003907.2:c.684+30_684+41delinsGGGGAAGTGACA	NP_003898.2:n.684+30_684+41delinsGGGGAAGTGACA
XR_924208.1:n.1635+30_1635+41delinsGGGGAAGTGACA
NM_003907.3:c.684+30_684+41delinsGGGGAAGTGACA MANE Select	NP_003898.2:n.684+30_684+41delinsGGGGAAGTGACA
XM_011513266.3:c.-218+30_-218+41delinsGGGGAAGTGACA	XP_011511568.1:n.-218+30_-218+41delinsGGGGAAGTGACA
XR_001740352.2:n.1047+30_1047+41delinsGGGGAAGTGACA
XR_001740353.2:n.1047+30_1047+41delinsGGGGAAGTGACA
XR_924208.2:n.1047+30_1047+41delinsGGGGAAGTGACA