Canonical Allele Identifier: CA1546525
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1701919
ClinVar RCV Id: RCV002466286
dbSNP Id: rs773475226

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002844dup , CM000664.2:g.21002844dup GRCh38
NC_000002.11:g.21225716dup , CM000664.1:g.21225716dup GRCh37
NC_000002.10:g.21079221dup NCBI36
NG_011793.1:g.46230dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12578dup MANE Select ENSP00000233242.1:p.Ile4194HisfsTer2
ENST00000616098.4:c.12578dup ENSP00000477990.1:p.Ile4194HisfsTer2
NM_000384.2:c.12578dup NP_000375.2:p.Ile4194HisfsTer2
XM_011532809.1:c.5870-3571dup XP_011531111.1:n.5870-3571dup
NM_000384.3:c.12578dup MANE Select NP_000375.3:p.Ile4194HisfsTer2