Canonical Allele Identifier: CA2658076730
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21007015-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007017dup , CM000664.2:g.21007017dup GRCh38
NC_000002.11:g.21229889dup , CM000664.1:g.21229889dup GRCh37
NC_000002.10:g.21083394dup NCBI36
NG_011793.1:g.42058dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9852dup MANE Select ENSP00000233242.1:p.Ile3285HisfsTer5
ENST00000616098.4:c.9852dup ENSP00000477990.1:p.Ile3285HisfsTer5
NM_000384.2:c.9852dup NP_000375.2:p.Ile3285HisfsTer5
XM_011532809.1:c.5869+3717dup XP_011531111.1:n.5869+3717dup
NM_000384.3:c.9852dup MANE Select NP_000375.3:p.Ile3285HisfsTer5
Search 100 bp 5'
Search 100 bp 3'