Canonical Allele Identifier: CA764086475
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1206245757
gnomAD v3: 2-21001775-GT-G
gnomAD v4: 2-21001775-GT-G
MyVariant Identifiers: chr2:g.21224648del (hg19) chr2:g.21001776del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001777del , CM000664.2:g.21001777del GRCh38
NC_000002.11:g.21224649del , CM000664.1:g.21224649del GRCh37
NC_000002.10:g.21078154del NCBI36
NG_011793.1:g.47298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13646del MANE Select ENSP00000233242.1:p.Asn4549ThrfsTer4
ENST00000616098.4:c.13644del ENSP00000477990.1:n.13644del
NM_000384.2:c.13646del NP_000375.2:p.Asn4549ThrfsTer4
XM_011532809.1:c.5870-2503del XP_011531111.1:n.5870-2503del
NM_000384.3:c.13646del MANE Select NP_000375.3:p.Asn4549ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'