Canonical Allele Identifier: CA2749100249
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038341_21038353del , CM000664.2:g.21038341_21038353del GRCh38
NC_000002.11:g.21261213_21261225del , CM000664.1:g.21261213_21261225del GRCh37
NC_000002.10:g.21114718_21114730del NCBI36
NG_011793.1:g.10733_10745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-1086_384-1074del ENSP00000501110.2:n.384-1086_384-1074del
ENST00000673882.2:c.384-1086_384-1074del ENSP00000501253.2:n.384-1086_384-1074del
ENST00000673739.1:c.252-1086_252-1074del ENSP00000501110.1:n.252-1086_252-1074del
ENST00000673882.1:c.252-1086_252-1074del ENSP00000501253.1:n.252-1086_252-1074del
ENST00000233242.5:c.384-230_384-218del MANE Select ENSP00000233242.1:n.384-230_384-218del
ENST00000399256.4:c.384-230_384-218del ENSP00000382200.4:n.384-230_384-218del
ENST00000616098.4:c.384-230_384-218del ENSP00000477990.1:n.384-230_384-218del
NM_000384.2:c.384-230_384-218del NP_000375.2:n.384-230_384-218del
XM_011532809.1:c.384-230_384-218del XP_011531111.1:n.384-230_384-218del
NM_000384.3:c.384-230_384-218del MANE Select NP_000375.3:n.384-230_384-218del