Canonical Allele Identifier: CA1139655594
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 950577
ClinVar RCV Id: RCV001838453
dbSNP Id: rs1663245097
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009465del , CM000664.2:g.21009465del GRCh38
NC_000002.11:g.21232337del , CM000664.1:g.21232337del GRCh37
NC_000002.10:g.21085842del NCBI36
NG_011793.1:g.39609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7403del MANE Select ENSP00000233242.1:p.Leu2468ArgfsTer3
ENST00000616098.4:c.7403del ENSP00000477990.1:p.Leu2468ArgfsTer3
NM_000384.2:c.7403del NP_000375.2:p.Leu2468ArgfsTer3
XM_011532809.1:c.5869+1268del XP_011531111.1:n.5869+1268del
NM_000384.3:c.7403del MANE Select NP_000375.3:p.Leu2468ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'