Canonical Allele Identifier: CA121945
Gene: VLDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 12202
ClinVar RCV Id: RCV000020556
dbSNP Id: rs80338906
MyVariant Identifiers: chr9:g.2651877del (hg19) chr9:g.2651877del (hg38)
PubMed: PMID:18326629 PMID:18364738 PMID:20301729
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2651877del , CM000671.2:g.2651877del GRCh38
NC_000009.11:g.2651877del , CM000671.1:g.2651877del GRCh37
NC_000009.10:g.2641877del NCBI36
NG_012741.1:g.35085del

Transcript Alleles

HGVS Amino-acid change
ENST00000382099.3:c.1897del
ENST00000382100.8:c.2339del MANE Select ENSP00000371532.2:p.Ile780ThrfsTer3
ENST00000679488.1:n.3038del
ENST00000679718.1:n.2848del
ENST00000679750.1:n.1671del
ENST00000679780.1:n.1115del
ENST00000679851.1:n.3054del
ENST00000680021.1:n.2539del
ENST00000680043.1:c.1807del
ENST00000680243.1:c.*1978del ENSP00000505911.1:n.*1978del
ENST00000680332.1:n.3245del
ENST00000680440.1:n.395del
ENST00000680745.1:n.1096del
ENST00000680746.1:c.2216del ENSP00000505030.1:p.Ile739ThrfsTer3
ENST00000680751.1:n.1660del
ENST00000680891.1:c.*2047del ENSP00000505167.1:n.*2047del
ENST00000680975.1:n.1724del
ENST00000681306.1:c.2255del ENSP00000506072.1:p.Ile752ThrfsTer3
ENST00000681486.1:n.439del
ENST00000681518.1:c.4del
ENST00000681618.1:c.2132del ENSP00000505773.1:p.Ile711ThrfsTer3
ENST00000681644.1:c.*1927del ENSP00000505180.1:n.*1927del
ENST00000681806.1:c.*693del ENSP00000505282.1:n.*693del
ENST00000681876.1:c.4del
ENST00000681942.1:c.1738del
ENST00000382099.2:c.2255del ENSP00000371531.2:p.Ile752ThrfsTer3
ENST00000382100.7:c.2339del ENSP00000371532.2:p.Ile780ThrfsTer3
NM_001018056.1:c.2255del NP_001018066.1:p.Ile752ThrfsTer3
NM_003383.3:c.2339del NP_003374.3:p.Ile780ThrfsTer3
XM_011518029.1:c.2216del XP_011516331.1:p.Ile739ThrfsTer3
NM_001018056.2:c.2255del NP_001018066.1:p.Ile752ThrfsTer3
NM_001322225.1:c.2216del NP_001309154.1:p.Ile739ThrfsTer3
NM_001322226.1:c.2132del NP_001309155.1:p.Ile711ThrfsTer3
NM_003383.4:c.2339del NP_003374.3:p.Ile780ThrfsTer3
XR_001746373.2:n.2594del
XR_002956805.1:n.2678del
NM_003383.5:c.2339del MANE Select NP_003374.3:p.Ile780ThrfsTer3
NM_001018056.3:c.2255del NP_001018066.1:p.Ile752ThrfsTer3
NM_001322225.2:c.2216del NP_001309154.1:p.Ile739ThrfsTer3
NM_001322226.2:c.2132del NP_001309155.1:p.Ile711ThrfsTer3
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