Canonical Allele Identifier: CA658820685

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 813944
• ClinVar RCV Id: RCV001004926
• dbSNP Id: rs1586653366

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645635del , CM000671.2:g.2645635del	GRCh38
NC_000009.11:g.2645635del , CM000671.1:g.2645635del	GRCh37
NC_000009.10:g.2635635del	NCBI36
NG_012741.1:g.28843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.932del
ENST00000382100.8:c.1374del MANE Select	ENSP00000371532.2:p.Glu460AsnfsTer5
ENST00000478776.2:n.819del
ENST00000679718.1:n.610del
ENST00000679750.1:n.790del
ENST00000679851.1:n.1558del
ENST00000680021.1:n.1574del
ENST00000680043.1:c.926del
ENST00000680219.1:c.941del
ENST00000680243.1:c.*1153del	ENSP00000505911.1:n.*1153del
ENST00000680296.1:c.800del
ENST00000680332.1:n.457del
ENST00000680746.1:c.1251del	ENSP00000505030.1:p.Glu419AsnfsTer5
ENST00000680751.1:n.779del
ENST00000680891.1:c.*1166del	ENSP00000505167.1:n.*1166del
ENST00000680975.1:n.759del
ENST00000681087.1:n.819del
ENST00000681306.1:c.1374del	ENSP00000506072.1:p.Glu460AsnfsTer5
ENST00000681618.1:c.1251del	ENSP00000505773.1:p.Glu419AsnfsTer5
ENST00000681644.1:c.*1046del	ENSP00000505180.1:n.*1046del
ENST00000681806.1:c.1374del	ENSP00000505282.1:p.Glu460AsnfsTer5
ENST00000681942.1:c.922del
ENST00000382099.2:c.1374del	ENSP00000371531.2:p.Glu460AsnfsTer5
ENST00000382100.7:c.1374del	ENSP00000371532.2:p.Glu460AsnfsTer5
NM_001018056.1:c.1374del	NP_001018066.1:p.Glu460AsnfsTer5
NM_003383.3:c.1374del	NP_003374.3:p.Glu460AsnfsTer5
XM_011518029.1:c.1251del	XP_011516331.1:p.Glu419AsnfsTer5
NM_001018056.2:c.1374del	NP_001018066.1:p.Glu460AsnfsTer5
NM_001322225.1:c.1251del	NP_001309154.1:p.Glu419AsnfsTer5
NM_001322226.1:c.1251del	NP_001309155.1:p.Glu419AsnfsTer5
NM_003383.4:c.1374del	NP_003374.3:p.Glu460AsnfsTer5
XR_001746373.2:n.1778del
XR_002956805.1:n.1778del
NM_003383.5:c.1374del MANE Select	NP_003374.3:p.Glu460AsnfsTer5
NM_001018056.3:c.1374del	NP_001018066.1:p.Glu460AsnfsTer5
NM_001322225.2:c.1251del	NP_001309154.1:p.Glu419AsnfsTer5
NM_001322226.2:c.1251del	NP_001309155.1:p.Glu419AsnfsTer5