Canonical Allele Identifier: CA2586968875
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010234del , CM000664.2:g.21010234del GRCh38
NC_000002.11:g.21233106del , CM000664.1:g.21233106del GRCh37
NC_000002.10:g.21086611del NCBI36
NG_011793.1:g.38840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6634del MANE Select ENSP00000233242.1:p.Asp2213MetfsTer8
ENST00000616098.4:c.6634del ENSP00000477990.1:p.Asp2213MetfsTer8
NM_000384.2:c.6634del NP_000375.2:p.Asp2213MetfsTer8
XM_011532809.1:c.5869+499del XP_011531111.1:n.5869+499del
NM_000384.3:c.6634del MANE Select NP_000375.3:p.Asp2213MetfsTer8