Canonical Allele Identifier: CA2580064976
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1770072
ClinVar RCV Id: RCV002385855
gnomAD v4: 2-21002128-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002129del , CM000664.2:g.21002129del GRCh38
NC_000002.11:g.21225001del , CM000664.1:g.21225001del GRCh37
NC_000002.10:g.21078506del NCBI36
NG_011793.1:g.46945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13293del MANE Select ENSP00000233242.1:p.Phe4432LeufsTer?
ENST00000616098.4:c.13291del ENSP00000477990.1:n.13291del
NM_000384.2:c.13293del NP_000375.2:p.Phe4432LeufsTer?
XM_011532809.1:c.5870-2856del XP_011531111.1:n.5870-2856del
NM_000384.3:c.13293del MANE Select NP_000375.3:p.Phe4432LeufsTer?
Search 100 bp 5'
Search 100 bp 3'