Canonical Allele Identifier: CA2689254124
Gene: VLDLR HGNC NCBI
VLDLR-AS1 HGNC NCBI

Linked Data

gnomAD v4: 9-2621989-TGGGGAGGAGACTGTGCAAGTTGTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2621997_2622020del , CM000671.2:g.2621997_2622020del GRCh38
NC_000009.11:g.2621997_2622020del , CM000671.1:g.2621997_2622020del GRCh37
NC_000009.10:g.2611997_2612020del NCBI36
NG_012741.1:g.5205_5228del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382096.6:c.-70-123_-70-100del (VLDLR) ENSP00000371528.2:n.-70-123_-70-100del
ENST00000382100.8:c.-193_-170del (VLDLR) MANE Select ENSP00000371532.2:n.-193_-170del
ENST00000680746.1:c.-193_-170del (VLDLR) ENSP00000505030.1:n.-193_-170del
ENST00000680891.1:c.-193_-170del (VLDLR) ENSP00000505167.1:n.-193_-170del
ENST00000681644.1:c.-193_-170del (VLDLR) ENSP00000505180.1:n.-193_-170del
ENST00000382096.5:c.-193_-170del (VLDLR) ENSP00000371528.1:n.-193_-170del
ENST00000382100.7:c.-193_-170del (VLDLR) ENSP00000371532.2:n.-193_-170del
NM_001018056.1:c.-193_-170del (VLDLR) NP_001018066.1:n.-193_-170del
NM_003383.3:c.-193_-170del (VLDLR) NP_003374.3:n.-193_-170del
NR_015375.2:n.274+87_274+110del (VLDLR-AS1)
XM_011518029.1:c.-193_-170del (VLDLR) XP_011516331.1:n.-193_-170del
NM_001018056.2:c.-193_-170del (VLDLR) NP_001018066.1:n.-193_-170del
NM_001322225.1:c.-193_-170del (VLDLR) NP_001309154.1:n.-193_-170del
NM_001322226.1:c.-193_-170del (VLDLR) NP_001309155.1:n.-193_-170del
NM_003383.4:c.-193_-170del (VLDLR) NP_003374.3:n.-193_-170del
XR_001746373.2:n.212_235del (VLDLR)
XR_002956805.1:n.212_235del (VLDLR)
NM_003383.5:c.-193_-170del (VLDLR) MANE Select NP_003374.3:n.-193_-170del
NM_001018056.3:c.-193_-170del (VLDLR) NP_001018066.1:n.-193_-170del
NM_001322225.2:c.-193_-170del (VLDLR) NP_001309154.1:n.-193_-170del
NM_001322226.2:c.-193_-170del (VLDLR) NP_001309155.1:n.-193_-170del
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