Canonical Allele Identifier: CA425347235
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015203dup , CM000664.2:g.21015203dup GRCh38
NC_000002.11:g.21238075dup , CM000664.1:g.21238075dup GRCh37
NC_000002.10:g.21091580dup NCBI36
NG_011793.1:g.33871dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2872dup ENSP00000501110.2:n.*2872dup
ENST00000673882.2:c.*2661dup ENSP00000501253.2:n.*2661dup
ENST00000673739.1:c.3280dup ENSP00000501110.1:n.3280dup
ENST00000673882.1:c.3069dup ENSP00000501253.1:n.3069dup
ENST00000233242.5:c.3566dup MANE Select ENSP00000233242.1:p.Met1189IlefsTer14
ENST00000616098.4:c.3566dup ENSP00000477990.1:p.Met1189IlefsTer14
NM_000384.2:c.3566dup NP_000375.2:p.Met1189IlefsTer14
XM_011532809.1:c.3566dup XP_011531111.1:p.Met1189IlefsTer14
NM_000384.3:c.3566dup MANE Select NP_000375.3:p.Met1189IlefsTer14