Canonical Allele Identifier: CA645539128
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010424-C-CT
COSMIC: COSM1405084
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010430dup , CM000664.2:g.21010430dup GRCh38
NC_000002.11:g.21233302dup , CM000664.1:g.21233302dup GRCh37
NC_000002.10:g.21086807dup NCBI36
NG_011793.1:g.38649dup

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.6443dup MANE Select ENSP00000233242.1:p.Tyr2149ValfsTer2
ENST00000616098.4:c.6443dup ENSP00000477990.1:p.Tyr2149ValfsTer2
NM_000384.2:c.6443dup NP_000375.2:p.Tyr2149ValfsTer2
XM_011532809.1:c.5869+308dup XP_011531111.1:n.5869+308dup
NM_000384.3:c.6443dup MANE Select NP_000375.3:p.Tyr2149ValfsTer2
Search 100 bp 5'
Search 100 bp 3'