Canonical Allele Identifier: CA263237
Gene: VLDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 55852
ClinVar RCV Id: RCV000049269
dbSNP Id: rs398122380
MyVariant Identifiers: chr9:g.2645017_2645023del (hg19) chr9:g.2645017_2645023del (hg38)
PubMed: PMID:11913577 PMID:22700954
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645019_2645025del , CM000671.2:g.2645019_2645025del GRCh38
NC_000009.11:g.2645019_2645025del , CM000671.1:g.2645019_2645025del GRCh37
NC_000009.10:g.2635019_2635025del NCBI36
NG_012741.1:g.28227_28233del

Transcript Alleles

HGVS Amino-acid change
ENST00000382099.3:c.807_813del
ENST00000382100.8:c.1249_1255del MANE Select ENSP00000371532.2:p.Tyr417ValfsTer19
ENST00000478776.2:n.694_700del
ENST00000679718.1:n.485_491del
ENST00000679750.1:n.665_671del
ENST00000679851.1:n.1433_1439del
ENST00000680021.1:n.1449_1455del
ENST00000680043.1:c.801_807del
ENST00000680150.1:n.429_435del
ENST00000680219.1:c.801_807del
ENST00000680243.1:c.*1028_*1034del ENSP00000505911.1:n.*1028_*1034del
ENST00000680296.1:c.738+166_738+172del
ENST00000680332.1:n.332_338del
ENST00000680746.1:c.1126_1132del ENSP00000505030.1:p.Tyr376ValfsTer19
ENST00000680751.1:n.654_660del
ENST00000680891.1:c.*1041_*1047del ENSP00000505167.1:n.*1041_*1047del
ENST00000680975.1:n.634_640del
ENST00000681087.1:n.694_700del
ENST00000681306.1:c.1249_1255del ENSP00000506072.1:p.Tyr417ValfsTer19
ENST00000681618.1:c.1126_1132del ENSP00000505773.1:p.Tyr376ValfsTer19
ENST00000681644.1:c.*921_*927del ENSP00000505180.1:n.*921_*927del
ENST00000681806.1:c.1249_1255del ENSP00000505282.1:p.Tyr417ValfsTer19
ENST00000681942.1:c.801_807del
ENST00000382099.2:c.1249_1255del ENSP00000371531.2:p.Tyr417ValfsTer19
ENST00000382100.7:c.1249_1255del ENSP00000371532.2:p.Tyr417ValfsTer19
NM_001018056.1:c.1249_1255del NP_001018066.1:p.Tyr417ValfsTer19
NM_003383.3:c.1249_1255del NP_003374.3:p.Tyr417ValfsTer19
XM_011518029.1:c.1126_1132del XP_011516331.1:p.Tyr376ValfsTer19
NM_001018056.2:c.1249_1255del NP_001018066.1:p.Tyr417ValfsTer19
NM_001322225.1:c.1126_1132del NP_001309154.1:p.Tyr376ValfsTer19
NM_001322226.1:c.1126_1132del NP_001309155.1:p.Tyr376ValfsTer19
NM_003383.4:c.1249_1255del NP_003374.3:p.Tyr417ValfsTer19
XR_001746373.2:n.1653_1659del
XR_002956805.1:n.1653_1659del
NM_003383.5:c.1249_1255del MANE Select NP_003374.3:p.Tyr417ValfsTer19
NM_001018056.3:c.1249_1255del NP_001018066.1:p.Tyr417ValfsTer19
NM_001322225.2:c.1126_1132del NP_001309154.1:p.Tyr376ValfsTer19
NM_001322226.2:c.1126_1132del NP_001309155.1:p.Tyr376ValfsTer19
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