Canonical Allele Identifier: CA903653975

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1245715692
• MyVariant Identifiers: chr3:g.183855894_183855904del (hg19) ; chr3:g.184138106_184138116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138108_184138118del , CM000665.2:g.184138108_184138118del	GRCh38
NC_000003.11:g.183855896_183855906del , CM000665.1:g.183855896_183855906del	GRCh37
NC_000003.10:g.185338590_185338600del	NCBI36
NG_015826.1:g.8087_8097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.707+33_707+43del
ENST00000468748.7:n.667+33_667+43del
ENST00000484154.2:n.1305+33_1305+43del
ENST00000491008.6:n.1432+33_1432+43del
ENST00000492226.2:n.681+33_681+43del
ENST00000492773.6:c.416+33_417-26del
ENST00000647636.1:c.684+33_684+43del	ENSP00000497505.1:n.684+33_684+43del
ENST00000647909.1:c.708+33_708+43del	ENSP00000498164.1:n.708+33_708+43del
ENST00000648145.1:c.452+33_452+43del
ENST00000648189.1:c.434+33_434+43del
ENST00000648256.1:c.633+33_633+43del	ENSP00000497356.1:n.633+33_633+43del
ENST00000648314.1:c.684+33_684+43del	ENSP00000496920.1:n.684+33_684+43del
ENST00000648599.1:c.684+33_684+43del	ENSP00000497159.1:n.684+33_684+43del
ENST00000648630.1:c.678+33_678+43del	ENSP00000497887.1:n.678+33_678+43del
ENST00000648682.1:c.684+33_684+43del	ENSP00000498185.1:n.684+33_684+43del
ENST00000648882.1:c.*510+33_*510+43del	ENSP00000497603.1:n.*510+33_*510+43del
ENST00000648890.1:c.684+33_684+43del	ENSP00000497503.1:n.684+33_684+43del
ENST00000648915.2:c.684+33_684+43del MANE Select	ENSP00000497160.1:n.684+33_684+43del
ENST00000649545.1:c.418+33_418+43del
ENST00000649688.1:c.684+33_684+43del	ENSP00000497097.1:n.684+33_684+43del
ENST00000649814.1:n.733+33_733+43del
ENST00000650270.1:c.551+33_551+43del
ENST00000273783.7:c.684+33_684+43del	ENSP00000273783.3:n.684+33_684+43del
ENST00000432982.5:c.245+1433_245+1443del
ENST00000444495.1:c.684+33_684+43del	ENSP00000409142.1:n.684+33_684+43del
ENST00000468748.5:n.137+33_137+43del
ENST00000481054.5:n.685+33_685+43del
ENST00000491008.5:n.648+33_648+43del
ENST00000491144.5:n.1124+33_1124+43del
NM_003907.2:c.684+33_684+43del	NP_003898.2:n.684+33_684+43del
XR_924208.1:n.1635+33_1635+43del
NM_003907.3:c.684+33_684+43del MANE Select	NP_003898.2:n.684+33_684+43del
XM_011513266.3:c.-218+33_-218+43del	XP_011511568.1:n.-218+33_-218+43del
XR_001740352.2:n.1047+33_1047+43del
XR_001740353.2:n.1047+33_1047+43del
XR_924208.2:n.1047+33_1047+43del