Canonical Allele Identifier: CA862622791
Gene: VLDLR HGNC NCBI

Linked Data

dbSNP Id: rs1402223713
gnomAD v3: 9-2640629-T-TA
gnomAD v4: 9-2640629-T-TA

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2640630dup , CM000671.2:g.2640630dup GRCh38
NC_000009.11:g.2640630dup , CM000671.1:g.2640630dup GRCh37
NC_000009.10:g.2630630dup NCBI36
NG_012741.1:g.23838dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382100.8:c.325+649dup MANE Select ENSP00000371532.2:n.325+649dup
ENST00000679851.1:n.310+649dup
ENST00000680021.1:n.525+649dup
ENST00000680243.1:c.*104+649dup ENSP00000505911.1:n.*104+649dup
ENST00000680746.1:c.325+649dup ENSP00000505030.1:n.325+649dup
ENST00000680891.1:c.*120+649dup ENSP00000505167.1:n.*120+649dup
ENST00000681306.1:c.325+649dup ENSP00000506072.1:n.325+649dup
ENST00000681618.1:c.325+649dup ENSP00000505773.1:n.325+649dup
ENST00000681644.1:c.*120+649dup ENSP00000505180.1:n.*120+649dup
ENST00000681770.1:n.962dup
ENST00000681806.1:c.325+649dup ENSP00000505282.1:n.325+649dup
ENST00000382096.5:c.325+649dup ENSP00000371528.1:n.325+649dup
ENST00000382099.2:c.325+649dup ENSP00000371531.2:n.325+649dup
ENST00000382100.7:c.325+649dup ENSP00000371532.2:n.325+649dup
NM_001018056.1:c.325+649dup NP_001018066.1:n.325+649dup
NM_003383.3:c.325+649dup NP_003374.3:n.325+649dup
XM_011518029.1:c.325+649dup XP_011516331.1:n.325+649dup
NM_001018056.2:c.325+649dup NP_001018066.1:n.325+649dup
NM_001322225.1:c.325+649dup NP_001309154.1:n.325+649dup
NM_001322226.1:c.325+649dup NP_001309155.1:n.325+649dup
NM_003383.4:c.325+649dup NP_003374.3:n.325+649dup
XR_001746373.2:n.729+649dup
XR_002956805.1:n.729+649dup
NM_003383.5:c.325+649dup MANE Select NP_003374.3:n.325+649dup
NM_001018056.3:c.325+649dup NP_001018066.1:n.325+649dup
NM_001322225.2:c.325+649dup NP_001309154.1:n.325+649dup
NM_001322226.2:c.325+649dup NP_001309155.1:n.325+649dup