Canonical Allele Identifier: CA2573051173
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21037994_21037996del , CM000664.2:g.21037994_21037996del GRCh38
NC_000002.11:g.21260866_21260868del , CM000664.1:g.21260866_21260868del GRCh37
NC_000002.10:g.21114371_21114373del NCBI36
NG_011793.1:g.11080_11082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-739_384-737del ENSP00000501110.2:n.384-739_384-737del
ENST00000673882.2:c.384-739_384-737del ENSP00000501253.2:n.384-739_384-737del
ENST00000673739.1:c.252-739_252-737del ENSP00000501110.1:n.252-739_252-737del
ENST00000673882.1:c.252-739_252-737del ENSP00000501253.1:n.252-739_252-737del
ENST00000233242.5:c.501_503del MANE Select ENSP00000233242.1:p.Pro168del
ENST00000399256.4:c.501_503del ENSP00000382200.4:p.Pro168del
ENST00000616098.4:c.501_503del ENSP00000477990.1:p.Pro168del
NM_000384.2:c.501_503del NP_000375.2:p.Pro168del
XM_011532809.1:c.501_503del XP_011531111.1:p.Pro168del
NM_000384.3:c.501_503del MANE Select NP_000375.3:p.Pro168del