Canonical Allele Identifier: CA2658056057
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010557-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010558del , CM000664.2:g.21010558del GRCh38
NC_000002.11:g.21233430del , CM000664.1:g.21233430del GRCh37
NC_000002.10:g.21086935del NCBI36
NG_011793.1:g.38516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6310del MANE Select ENSP00000233242.1:p.Ile2104LeufsTer5
ENST00000616098.4:c.6310del ENSP00000477990.1:p.Ile2104LeufsTer5
NM_000384.2:c.6310del NP_000375.2:p.Ile2104LeufsTer5
XM_011532809.1:c.5869+175del XP_011531111.1:n.5869+175del
NM_000384.3:c.6310del MANE Select NP_000375.3:p.Ile2104LeufsTer5
Search 100 bp 5'
Search 100 bp 3'