Canonical Allele Identifier: CA2473570383
Gene: EIF2B3 HGNC NCBI

Linked Data

dbSNP Id: rs1644476631

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44978504_44978505insT , CM000663.2:g.44978504_44978505insT GRCh38
NC_000001.10:g.45444176_45444177insT , CM000663.1:g.45444176_45444177insT GRCh37
NC_000001.9:g.45216763_45216764insT NCBI36
NG_015864.1:g.13185_13186insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000360403.7:c.149-45_149-44insA MANE Select ENSP00000353575.2:n.149-45_149-44insA
ENST00000360403.6:c.149-45_149-44insA ENSP00000353575.2:n.149-45_149-44insA
ENST00000372182.6:n.262-45_262-44insA
ENST00000372183.7:c.149-45_149-44insA ENSP00000361257.3:n.149-45_149-44insA
ENST00000477953.5:n.252-45_252-44insA
ENST00000480675.5:c.149-45_149-44insA ENSP00000485842.1:n.149-45_149-44insA
ENST00000487532.5:n.261-45_261-44insA
ENST00000497010.1:n.261-45_261-44insA
ENST00000620860.4:c.149-45_149-44insA ENSP00000483996.1:n.149-45_149-44insA
NM_001166588.2:c.149-45_149-44insA NP_001160060.1:n.149-45_149-44insA
NM_001261418.1:c.149-45_149-44insA NP_001248347.1:n.149-45_149-44insA
NM_020365.4:c.149-45_149-44insA NP_065098.1:n.149-45_149-44insA
XM_011542396.1:c.149-45_149-44insA XP_011540698.1:n.149-45_149-44insA
XM_017002745.2:c.149-45_149-44insA XP_016858234.1:n.149-45_149-44insA
XM_017002746.1:c.-306-45_-306-44insA XP_016858235.1:n.-306-45_-306-44insA
XM_017002747.1:c.-306-45_-306-44insA XP_016858236.1:n.-306-45_-306-44insA
NM_020365.5:c.149-45_149-44insA MANE Select NP_065098.1:n.149-45_149-44insA
NM_001166588.3:c.149-45_149-44insA NP_001160060.1:n.149-45_149-44insA
NM_001261418.2:c.149-45_149-44insA NP_001248347.1:n.149-45_149-44insA