Canonical Allele Identifier: CA2740092732
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2927629
ClinVar RCV Id: RCV003784259
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009444del , CM000664.2:g.21009444del GRCh38
NC_000002.11:g.21232316del , CM000664.1:g.21232316del GRCh37
NC_000002.10:g.21085821del NCBI36
NG_011793.1:g.39631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7425del MANE Select ENSP00000233242.1:p.Thr2476GlnfsTer14
ENST00000616098.4:c.7425del ENSP00000477990.1:p.Thr2476GlnfsTer14
NM_000384.2:c.7425del NP_000375.2:p.Thr2476GlnfsTer14
XM_011532809.1:c.5869+1290del XP_011531111.1:n.5869+1290del
NM_000384.3:c.7425del MANE Select NP_000375.3:p.Thr2476GlnfsTer14
Search 100 bp 5'
Search 100 bp 3'