Canonical Allele Identifier: CA2586968788
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038000del , CM000664.2:g.21038000del GRCh38
NC_000002.11:g.21260872del , CM000664.1:g.21260872del GRCh37
NC_000002.10:g.21114377del NCBI36
NG_011793.1:g.11075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-744del ENSP00000501110.2:n.384-744del
ENST00000673882.2:c.384-744del ENSP00000501253.2:n.384-744del
ENST00000673739.1:c.252-744del ENSP00000501110.1:n.252-744del
ENST00000673882.1:c.252-744del ENSP00000501253.1:n.252-744del
ENST00000233242.5:c.496del MANE Select ENSP00000233242.1:p.Val166PhefsTer?
ENST00000399256.4:c.496del ENSP00000382200.4:p.Val166PhefsTer?
ENST00000616098.4:c.496del ENSP00000477990.1:p.Val166PhefsTer?
NM_000384.2:c.496del NP_000375.2:p.Val166PhefsTer?
XM_011532809.1:c.496del XP_011531111.1:p.Val166PhefsTer?
NM_000384.3:c.496del MANE Select NP_000375.3:p.Val166PhefsTer?