Canonical Allele Identifier: CA2579290111
Gene: VLDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2645638dup , CM000671.2:g.2645638dup GRCh38
NC_000009.11:g.2645638dup , CM000671.1:g.2645638dup GRCh37
NC_000009.10:g.2635638dup NCBI36
NG_012741.1:g.28846dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382099.3:c.935dup
ENST00000382100.8:c.1377dup MANE Select ENSP00000371532.2:p.Glu460ArgfsTer7
ENST00000478776.2:n.822dup
ENST00000679718.1:n.613dup
ENST00000679750.1:n.793dup
ENST00000679851.1:n.1561dup
ENST00000680021.1:n.1577dup
ENST00000680043.1:c.929dup
ENST00000680219.1:c.944dup
ENST00000680243.1:c.*1156dup ENSP00000505911.1:n.*1156dup
ENST00000680296.1:c.803dup
ENST00000680332.1:n.460dup
ENST00000680746.1:c.1254dup ENSP00000505030.1:p.Glu419ArgfsTer7
ENST00000680751.1:n.782dup
ENST00000680891.1:c.*1169dup ENSP00000505167.1:n.*1169dup
ENST00000680975.1:n.762dup
ENST00000681087.1:n.822dup
ENST00000681306.1:c.1377dup ENSP00000506072.1:p.Glu460ArgfsTer7
ENST00000681618.1:c.1254dup ENSP00000505773.1:p.Glu419ArgfsTer7
ENST00000681644.1:c.*1049dup ENSP00000505180.1:n.*1049dup
ENST00000681806.1:c.1377dup ENSP00000505282.1:p.Glu460ArgfsTer7
ENST00000681942.1:c.925dup
ENST00000382099.2:c.1377dup ENSP00000371531.2:p.Glu460ArgfsTer7
ENST00000382100.7:c.1377dup ENSP00000371532.2:p.Glu460ArgfsTer7
NM_001018056.1:c.1377dup NP_001018066.1:p.Glu460ArgfsTer7
NM_003383.3:c.1377dup NP_003374.3:p.Glu460ArgfsTer7
XM_011518029.1:c.1254dup XP_011516331.1:p.Glu419ArgfsTer7
NM_001018056.2:c.1377dup NP_001018066.1:p.Glu460ArgfsTer7
NM_001322225.1:c.1254dup NP_001309154.1:p.Glu419ArgfsTer7
NM_001322226.1:c.1254dup NP_001309155.1:p.Glu419ArgfsTer7
NM_003383.4:c.1377dup NP_003374.3:p.Glu460ArgfsTer7
XR_001746373.2:n.1781dup
XR_002956805.1:n.1781dup
NM_003383.5:c.1377dup MANE Select NP_003374.3:p.Glu460ArgfsTer7
NM_001018056.3:c.1377dup NP_001018066.1:p.Glu460ArgfsTer7
NM_001322225.2:c.1254dup NP_001309154.1:p.Glu419ArgfsTer7
NM_001322226.2:c.1254dup NP_001309155.1:p.Glu419ArgfsTer7