Canonical Allele Identifier: CA2658056043
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010068-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010069del , CM000664.2:g.21010069del GRCh38
NC_000002.11:g.21232941del , CM000664.1:g.21232941del GRCh37
NC_000002.10:g.21086446del NCBI36
NG_011793.1:g.39005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6799del MANE Select ENSP00000233242.1:p.Gln2267SerfsTer10
ENST00000616098.4:c.6799del ENSP00000477990.1:p.Gln2267SerfsTer10
NM_000384.2:c.6799del NP_000375.2:p.Gln2267SerfsTer10
XM_011532809.1:c.5869+664del XP_011531111.1:n.5869+664del
NM_000384.3:c.6799del MANE Select NP_000375.3:p.Gln2267SerfsTer10
Search 100 bp 5'
Search 100 bp 3'