Canonical Allele Identifier: CA2749099709
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011045_21011046del , CM000664.2:g.21011045_21011046del GRCh38
NC_000002.11:g.21233917_21233918del , CM000664.1:g.21233917_21233918del GRCh37
NC_000002.10:g.21087422_21087423del NCBI36
NG_011793.1:g.38028_38029del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5822_5823del MANE Select ENSP00000233242.1:p.Thr1941IlefsTer4
ENST00000616098.4:c.5822_5823del ENSP00000477990.1:p.Thr1941IlefsTer4
NM_000384.2:c.5822_5823del NP_000375.2:p.Thr1941IlefsTer4
XM_011532809.1:c.5822_5823del XP_011531111.1:p.Thr1941IlefsTer4
NM_000384.3:c.5822_5823del MANE Select NP_000375.3:p.Thr1941IlefsTer4