Canonical Allele Identifier: CA2586973236

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136663del , CM000665.2:g.184136663del	GRCh38
NC_000003.11:g.183854451del , CM000665.1:g.183854451del	GRCh37
NC_000003.10:g.185337145del	NCBI36
NG_015826.1:g.6642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.247del	ENSP00000414775.1:p.Leu83Ter
ENST00000465218.3:n.270del
ENST00000468748.7:n.230del
ENST00000471832.2:c.*241del	ENSP00000497786.1:n.*241del
ENST00000491008.6:n.112del
ENST00000492226.2:n.244del
ENST00000647636.1:c.247del	ENSP00000497505.1:p.Leu83Ter
ENST00000647909.1:c.247del	ENSP00000498164.1:p.Leu83Ter
ENST00000648145.1:c.15del
ENST00000648256.1:c.196del	ENSP00000497356.1:p.Leu66Ter
ENST00000648314.1:c.247del	ENSP00000496920.1:p.Leu83Ter
ENST00000648599.1:c.247del	ENSP00000497159.1:p.Leu83Ter
ENST00000648630.1:c.241del	ENSP00000497887.1:p.Leu81Ter
ENST00000648682.1:c.247del	ENSP00000498185.1:p.Leu83Ter
ENST00000648882.1:c.*73del	ENSP00000497603.1:n.*73del
ENST00000648890.1:c.247del	ENSP00000497503.1:p.Leu83Ter
ENST00000648915.2:c.247del MANE Select	ENSP00000497160.1:p.Leu83Ter
ENST00000649688.1:c.247del	ENSP00000497097.1:p.Leu83Ter
ENST00000649814.1:n.296del
ENST00000650244.1:c.392del	ENSP00000497227.1:n.392del
ENST00000650270.1:c.114del
ENST00000273783.7:c.247del	ENSP00000273783.3:p.Leu83Ter
ENST00000432569.1:c.247del	ENSP00000414775.1:p.Leu83Ter
ENST00000432982.5:c.233del
ENST00000444495.1:c.247del	ENSP00000409142.1:p.Leu83Ter
ENST00000471832.1:n.178del
ENST00000481054.5:n.248del
ENST00000491144.5:n.595del
ENST00000498831.1:n.103del
NM_003907.2:c.247del	NP_003898.2:p.Leu83Ter
XR_924208.1:n.1198del
NM_003907.3:c.247del MANE Select	NP_003898.2:p.Leu83Ter
XM_011513266.3:c.-655del	XP_011511568.1:n.-655del
XR_001740352.2:n.610del
XR_001740353.2:n.610del
XR_924208.2:n.610del