Canonical Allele Identifier: CA645539130
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM5635364
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010704dup , CM000664.2:g.21010704dup GRCh38
NC_000002.11:g.21233576dup , CM000664.1:g.21233576dup GRCh37
NC_000002.10:g.21087081dup NCBI36
NG_011793.1:g.38371dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6165dup MANE Select ENSP00000233242.1:p.Ala2056CysfsTer6
ENST00000616098.4:c.6165dup ENSP00000477990.1:p.Ala2056CysfsTer6
NM_000384.2:c.6165dup NP_000375.2:p.Ala2056CysfsTer6
XM_011532809.1:c.5869+30dup XP_011531111.1:n.5869+30dup
NM_000384.3:c.6165dup MANE Select NP_000375.3:p.Ala2056CysfsTer6
Search 100 bp 5'
Search 100 bp 3'