Canonical Allele Identifier: CA1546521
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 920520
ClinVar RCV Id: RCV002483973
dbSNP Id: rs758853340
ExAC: 2:21225055 GT / G
gnomAD v2: 2-21225055-GT-G
gnomAD v4: 2-21002183-GT-G
MyVariant Identifiers: chr2:g.21225056del (hg19) chr2:g.21002184del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002185del , CM000664.2:g.21002185del GRCh38
NC_000002.11:g.21225057del , CM000664.1:g.21225057del GRCh37
NC_000002.10:g.21078562del NCBI36
NG_011793.1:g.46890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13238del MANE Select ENSP00000233242.1:p.Asn4413ThrfsTer3
ENST00000616098.4:c.13236del ENSP00000477990.1:n.13236del
NM_000384.2:c.13238del NP_000375.2:p.Asn4413ThrfsTer3
XM_011532809.1:c.5870-2911del XP_011531111.1:n.5870-2911del
NM_000384.3:c.13238del MANE Select NP_000375.3:p.Asn4413ThrfsTer3
Search 100 bp 5'
Search 100 bp 3'