Canonical Allele Identifier: CA2658056031
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21009584-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009587dup , CM000664.2:g.21009587dup GRCh38
NC_000002.11:g.21232459dup , CM000664.1:g.21232459dup GRCh37
NC_000002.10:g.21085964dup NCBI36
NG_011793.1:g.39489dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7283dup MANE Select ENSP00000233242.1:p.Ser2429ValfsTer3
ENST00000616098.4:c.7283dup ENSP00000477990.1:p.Ser2429ValfsTer3
NM_000384.2:c.7283dup NP_000375.2:p.Ser2429ValfsTer3
XM_011532809.1:c.5869+1148dup XP_011531111.1:n.5869+1148dup
NM_000384.3:c.7283dup MANE Select NP_000375.3:p.Ser2429ValfsTer3
Search 100 bp 5'
Search 100 bp 3'