Canonical Allele Identifier: CA2689245228
Gene: VLDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2744190
ClinVar RCV Id: RCV003560729

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2635447_2635448del , CM000671.2:g.2635447_2635448del GRCh38
NC_000009.11:g.2635447_2635448del , CM000671.1:g.2635447_2635448del GRCh37
NC_000009.10:g.2625447_2625448del NCBI36
NG_012741.1:g.18655_18656del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382096.6:c.83-6_83-5del ENSP00000371528.2:n.83-6_83-5del
ENST00000382100.8:c.83-6_83-5del MANE Select ENSP00000371532.2:n.83-6_83-5del
ENST00000679851.1:n.68-6_68-5del
ENST00000680021.1:n.283-6_283-5del
ENST00000680243.1:c.83-6_83-5del ENSP00000505911.1:n.83-6_83-5del
ENST00000680746.1:c.83-6_83-5del ENSP00000505030.1:n.83-6_83-5del
ENST00000680891.1:c.181-6_181-5del ENSP00000505167.1:n.181-6_181-5del
ENST00000681306.1:c.83-6_83-5del ENSP00000506072.1:n.83-6_83-5del
ENST00000681618.1:c.83-6_83-5del ENSP00000505773.1:n.83-6_83-5del
ENST00000681644.1:c.181-6_181-5del ENSP00000505180.1:n.181-6_181-5del
ENST00000681770.1:n.71-6_71-5del
ENST00000681806.1:c.83-6_83-5del ENSP00000505282.1:n.83-6_83-5del
ENST00000382096.5:c.83-6_83-5del ENSP00000371528.1:n.83-6_83-5del
ENST00000382099.2:c.83-6_83-5del ENSP00000371531.2:n.83-6_83-5del
ENST00000382100.7:c.83-6_83-5del ENSP00000371532.2:n.83-6_83-5del
NM_001018056.1:c.83-6_83-5del NP_001018066.1:n.83-6_83-5del
NM_003383.3:c.83-6_83-5del NP_003374.3:n.83-6_83-5del
XM_011518029.1:c.83-6_83-5del XP_011516331.1:n.83-6_83-5del
NM_001018056.2:c.83-6_83-5del NP_001018066.1:n.83-6_83-5del
NM_001322225.1:c.83-6_83-5del NP_001309154.1:n.83-6_83-5del
NM_001322226.1:c.83-6_83-5del NP_001309155.1:n.83-6_83-5del
NM_003383.4:c.83-6_83-5del NP_003374.3:n.83-6_83-5del
XR_001746373.2:n.487-6_487-5del
XR_002956805.1:n.487-6_487-5del
NM_003383.5:c.83-6_83-5del MANE Select NP_003374.3:n.83-6_83-5del
NM_001018056.3:c.83-6_83-5del NP_001018066.1:n.83-6_83-5del
NM_001322225.2:c.83-6_83-5del NP_001309154.1:n.83-6_83-5del
NM_001322226.2:c.83-6_83-5del NP_001309155.1:n.83-6_83-5del