Canonical Allele Identifier: CA2499225312
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067553
ClinVar RCV Id: RCV001378852
dbSNP Id: rs2147186763
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089616dup , CM000681.2:g.11089616dup GRCh38
NC_000019.9:g.11200292dup , CM000681.1:g.11200292dup GRCh37
NC_000019.8:g.11061292dup NCBI36
NG_009060.1:g.5236dup , LRG_274:g.5236dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.67+1dup (LDLR)
ENST00000560467.2:c.67+1dup (LDLR)
ENST00000558518.6:c.67+1dup (LDLR)
ENST00000455727.6:c.67+1dup (LDLR)
ENST00000535915.5:c.67+1dup (LDLR)
ENST00000545707.5:c.67+1dup (LDLR)
ENST00000557933.5:c.67+1dup (LDLR)
ENST00000557958.1:n.153+1dup (LDLR)
ENST00000558013.5:c.67+1dup (LDLR)
ENST00000558518.5:c.67+1dup (LDLR)
ENST00000560502.5:n.153+1dup (LDLR)
NM_000527.4:c.67+1dup , LRG_274t1:c.67+1dup (LDLR)
NM_001195798.1:c.67+1dup (LDLR)
NM_001195799.1:c.67+1dup (LDLR)
NM_001195800.1:c.67+1dup (LDLR)
NM_001195803.1:c.67+1dup (LDLR)
XM_011528010.1:c.67+1dup (LDLR)
XM_011528011.1:c.67+1dup (LDLR)
XR_244074.2:n.217+1dup (LDLR)
XM_011528010.2:c.67+1dup (LDLR)
XR_001753685.2:n.184+1dup (LDLR)
XR_001753686.2:n.184+1dup (LDLR)
NM_000527.5:c.67+1dup (LDLR)
NM_001195798.2:c.67+1dup (LDLR)
NM_001195799.2:c.67+1dup (LDLR)
NM_001195800.2:c.67+1dup (LDLR)
NM_001195803.2:c.67+1dup (LDLR)
NR_163945.1:n.45dup (LDLR-AS1)
Search 100 bp 5'
Search 100 bp 3'