Canonical Allele Identifier: CA2473570436
Gene: EIF2B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44978621_44978642delinsCTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.44978621_44978642delinsCTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000001.10:g.45444293_45444314delinsCTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.45444293_45444314delinsCTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000001.9:g.45216880_45216901delinsCTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_015864.1:g.13048_13069delinsAAAAAAAAAAAAAAAAAAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000360403.7:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG MANE Select ENSP00000353575.2:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAA...
ENST00000360403.6:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG ENSP00000353575.2:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAA...
ENST00000372182.6:n.262-182_262-161delinsAAAAAAAAAAAAAAAAAAAAAG
ENST00000372183.7:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG ENSP00000361257.3:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAA...
ENST00000477953.5:n.252-182_252-161delinsAAAAAAAAAAAAAAAAAAAAAG
ENST00000480675.5:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG ENSP00000485842.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAA...
ENST00000487532.5:n.261-182_261-161delinsAAAAAAAAAAAAAAAAAAAAAG
ENST00000497010.1:n.261-182_261-161delinsAAAAAAAAAAAAAAAAAAAAAG
ENST00000620860.4:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG ENSP00000483996.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAA...
NM_001166588.2:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG NP_001160060.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
NM_001261418.1:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG NP_001248347.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
NM_020365.4:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG NP_065098.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
XM_011542396.1:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG XP_011540698.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
XM_017002745.2:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG XP_016858234.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
XM_017002746.1:c.-306-182_-306-161delinsAAAAAAAAAAAAAAAAAAAAAG XP_016858235.1:n.-306-182_-306-161delinsAAAAAAAAAAAAAAAAAAAAA...
XM_017002747.1:c.-306-182_-306-161delinsAAAAAAAAAAAAAAAAAAAAAG XP_016858236.1:n.-306-182_-306-161delinsAAAAAAAAAAAAAAAAAAAAA...
NM_020365.5:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG MANE Select NP_065098.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
NM_001166588.3:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG NP_001160060.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG
NM_001261418.2:c.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG NP_001248347.1:n.149-182_149-161delinsAAAAAAAAAAAAAAAAAAAAAG