Canonical Allele Identifier: CA052449
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 979090
ClinVar RCV Id: RCV001258135 RCV002486003
dbSNP Id: rs750076573
ExAC: 2:21224973 CA / C
gnomAD v2: 2-21224973-CA-C
gnomAD v4: 2-21002101-CA-C
MyVariant Identifiers: chr2:g.21224974del (hg19) chr2:g.21002102del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002103del , CM000664.2:g.21002103del GRCh38
NC_000002.11:g.21224975del , CM000664.1:g.21224975del GRCh37
NC_000002.10:g.21078480del NCBI36
NG_011793.1:g.46972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13320del MANE Select ENSP00000233242.1:p.Glu4441SerfsTer?
ENST00000616098.4:c.13318del ENSP00000477990.1:n.13318del
NM_000384.2:c.13320del NP_000375.2:p.Glu4441SerfsTer?
XM_011532809.1:c.5870-2829del XP_011531111.1:n.5870-2829del
NM_000384.3:c.13320del MANE Select NP_000375.3:p.Glu4441SerfsTer?
Search 100 bp 5'
Search 100 bp 3'