Canonical Allele Identifier: CA2576686518
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010726del , CM000664.2:g.21010726del GRCh38
NC_000002.11:g.21233598del , CM000664.1:g.21233598del GRCh37
NC_000002.10:g.21087103del NCBI36
NG_011793.1:g.38349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6143del MANE Select ENSP00000233242.1:p.Lys2048SerfsTer11
ENST00000616098.4:c.6143del ENSP00000477990.1:p.Lys2048SerfsTer11
NM_000384.2:c.6143del NP_000375.2:p.Lys2048SerfsTer11
XM_011532809.1:c.5869+8del XP_011531111.1:n.5869+8del
NM_000384.3:c.6143del MANE Select NP_000375.3:p.Lys2048SerfsTer11