Canonical Allele Identifier: CA022868
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 17884
dbSNP Id: rs121918384

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011302_21011303del , CM000664.2:g.21011302_21011303del GRCh38
NC_000002.11:g.21234174_21234175del , CM000664.1:g.21234174_21234175del GRCh37
NC_000002.10:g.21087679_21087680del NCBI36
NG_011793.1:g.37772_37773del

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.5566_5567del MANE Select ENSP00000233242.1:p.Val1856CysfsTer2
ENST00000616098.4:c.5566_5567del ENSP00000477990.1:p.Val1856CysfsTer2
NM_000384.2:c.5566_5567del NP_000375.2:p.Val1856CysfsTer2
XM_011532809.1:c.5566_5567del XP_011531111.1:p.Val1856CysfsTer2
NM_000384.3:c.5566_5567del MANE Select NP_000375.3:p.Val1856CysfsTer2