Canonical Allele Identifier: CA2697550273

Gene: VLDLR

Linked Data

• ClinVar Variation Id: 2766171
• ClinVar RCV Id: RCV003580160

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2635509dup , CM000671.2:g.2635509dup	GRCh38
NC_000009.11:g.2635509dup , CM000671.1:g.2635509dup	GRCh37
NC_000009.10:g.2625509dup	NCBI36
NG_012741.1:g.18717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382096.6:c.139dup	ENSP00000371528.2:p.Thr47AsnfsTer7
ENST00000382100.8:c.139dup MANE Select	ENSP00000371532.2:p.Thr47AsnfsTer7
ENST00000679851.1:n.124dup
ENST00000680021.1:n.339dup
ENST00000680243.1:c.139dup	ENSP00000505911.1:p.Thr47AsnfsTer7
ENST00000680746.1:c.139dup	ENSP00000505030.1:p.Thr47AsnfsTer7
ENST00000680891.1:c.237dup	ENSP00000505167.1:p.Arg80ThrfsTer?
ENST00000681306.1:c.139dup	ENSP00000506072.1:p.Thr47AsnfsTer7
ENST00000681618.1:c.139dup	ENSP00000505773.1:p.Thr47AsnfsTer7
ENST00000681644.1:c.237dup	ENSP00000505180.1:p.Arg80ThrfsTer?
ENST00000681770.1:n.127dup
ENST00000681806.1:c.139dup	ENSP00000505282.1:p.Thr47AsnfsTer7
ENST00000382096.5:c.139dup	ENSP00000371528.1:p.Thr47AsnfsTer7
ENST00000382099.2:c.139dup	ENSP00000371531.2:p.Thr47AsnfsTer7
ENST00000382100.7:c.139dup	ENSP00000371532.2:p.Thr47AsnfsTer7
NM_001018056.1:c.139dup	NP_001018066.1:p.Thr47AsnfsTer7
NM_003383.3:c.139dup	NP_003374.3:p.Thr47AsnfsTer7
XM_011518029.1:c.139dup	XP_011516331.1:p.Thr47AsnfsTer7
NM_001018056.2:c.139dup	NP_001018066.1:p.Thr47AsnfsTer7
NM_001322225.1:c.139dup	NP_001309154.1:p.Thr47AsnfsTer7
NM_001322226.1:c.139dup	NP_001309155.1:p.Thr47AsnfsTer7
NM_003383.4:c.139dup	NP_003374.3:p.Thr47AsnfsTer7
XR_001746373.2:n.543dup
XR_002956805.1:n.543dup
NM_003383.5:c.139dup MANE Select	NP_003374.3:p.Thr47AsnfsTer7
NM_001018056.3:c.139dup	NP_001018066.1:p.Thr47AsnfsTer7
NM_001322225.2:c.139dup	NP_001309154.1:p.Thr47AsnfsTer7
NM_001322226.2:c.139dup	NP_001309155.1:p.Thr47AsnfsTer7