Canonical Allele Identifier: CA88840900
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113994056

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140106delinsACA , CM000665.2:g.184140106delinsACA GRCh38
NC_000003.11:g.183857894delinsACA , CM000665.1:g.183857894delinsACA GRCh37
NC_000003.10:g.185340588delinsACA NCBI36
NG_015826.1:g.10085delinsACA

Transcript Alleles

HGVS Amino-acid change
ENST00000465218.3:n.815delinsACA
ENST00000468748.7:n.775delinsACA
ENST00000484154.2:n.1387-1819delinsACA
ENST00000491008.6:n.1540delinsACA
ENST00000492226.2:n.789delinsACA
ENST00000492773.6:c.546delinsACA
ENST00000647636.1:c.792delinsACA ENSP00000497505.1:p.Phe264LeufsTer15
ENST00000647909.1:c.816delinsACA ENSP00000498164.1:p.Phe272LeufsTer15
ENST00000648145.1:c.560delinsACA
ENST00000648189.1:c.542delinsACA
ENST00000648256.1:c.764delinsACA ENSP00000497356.1:p.Leu255TyrfsTer8
ENST00000648314.1:c.792delinsACA ENSP00000496920.1:p.Phe264LeufsTer15
ENST00000648599.1:c.*75delinsACA ENSP00000497159.1:n.*75delinsACA
ENST00000648630.1:c.786delinsACA ENSP00000497887.1:p.Phe262LeufsTer15
ENST00000648682.1:c.792delinsACA ENSP00000498185.1:p.Phe264LeufsTer15
ENST00000648882.1:c.*618delinsACA ENSP00000497603.1:n.*618delinsACA
ENST00000648890.1:c.792delinsACA ENSP00000497503.1:p.Phe264LeufsTer15
ENST00000648915.2:c.792delinsACA MANE Select ENSP00000497160.1:p.Phe264LeufsTer15
ENST00000649545.1:c.526delinsACA
ENST00000649688.1:c.*75delinsACA ENSP00000497097.1:n.*75delinsACA
ENST00000649814.1:n.841delinsACA
ENST00000650270.1:c.659delinsACA
ENST00000273783.7:c.792delinsACA ENSP00000273783.3:p.Phe264LeufsTer15
ENST00000432982.5:c.246-2131delinsACA
ENST00000444495.1:c.792delinsACA ENSP00000409142.1:p.Phe264LeufsTer15
ENST00000468748.5:n.245delinsACA
ENST00000479833.1:n.108delinsACA
ENST00000481054.5:n.886delinsACA
ENST00000491008.5:n.756delinsACA
ENST00000491144.5:n.1232delinsACA
NM_003907.2:c.792delinsACA NP_003898.2:p.Phe264LeufsTer15
XM_011513265.1:c.42delinsACA XP_011511567.1:p.Phe14LeufsTer15
XR_924208.1:n.1743delinsACA
NM_003907.3:c.792delinsACA MANE Select NP_003898.2:p.Phe264LeufsTer15
XM_011513266.3:c.-110delinsACA XP_011511568.1:n.-110delinsACA
XR_001740352.2:n.1155delinsACA
XR_001740353.2:n.1155delinsACA
XR_924208.2:n.1155delinsACA