Canonical Allele Identifier: CA022773
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 17885
ClinVar RCV Id: RCV000019474
dbSNP Id: rs121918385

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21003241del , CM000664.2:g.21003241del GRCh38
NC_000002.11:g.21226113del , CM000664.1:g.21226113del GRCh37
NC_000002.10:g.21079618del NCBI36
NG_011793.1:g.45833del

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.12181del MANE Select ENSP00000233242.1:p.Glu4061ArgfsTer7
ENST00000616098.4:c.12181del ENSP00000477990.1:p.Glu4061ArgfsTer7
NM_000384.2:c.12181del NP_000375.2:p.Glu4061ArgfsTer7
XM_011532809.1:c.5870-3968del XP_011531111.1:n.5870-3968del
NM_000384.3:c.12181del MANE Select NP_000375.3:p.Glu4061ArgfsTer7