Canonical Allele Identifier: CA10585169
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251496
ClinVar RCV Id: RCV000237964
dbSNP Id: rs879254701
MyVariant Identifiers: chr19:g.11218125dupT (hg19) chr19:g.11107449dupT (hg38)
PubMed: PMID:20809525
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107449dup , CM000681.2:g.11107449dup GRCh38
NC_000019.9:g.11218125dup , CM000681.1:g.11218125dup GRCh37
NC_000019.8:g.11079125dup NCBI36
NG_009060.1:g.23069dup , LRG_274:g.23069dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1133dup ENSP00000252444.6:p.Asp379GlyfsTer8
ENST00000559340.2:c.875dup ENSP00000453696.2:p.Asp293GlyfsTer8
ENST00000560467.2:c.875dup ENSP00000453513.2:p.Asp293GlyfsTer8
ENST00000558518.6:c.875dup MANE Select ENSP00000454071.1:p.Asp293GlyfsTer8
ENST00000252444.9:c.1129dup
ENST00000455727.6:c.371dup ENSP00000397829.2:p.Asp125GlyfsTer8
ENST00000535915.5:c.752dup ENSP00000440520.1:p.Asp252GlyfsTer8
ENST00000545707.5:c.494dup ENSP00000437639.1:p.Asp166GlyfsTer8
ENST00000557933.5:c.875dup ENSP00000453557.1:p.Asp293GlyfsTer8
ENST00000558013.5:c.875dup ENSP00000453346.1:p.Asp293GlyfsTer8
ENST00000558518.5:c.875dup ENSP00000454071.1:p.Asp293GlyfsTer8
ENST00000558528.1:n.390dup
ENST00000560467.1:c.475dup
NM_000527.4:c.875dup , LRG_274t1:c.875dup NP_000518.1:p.Asp293GlyfsTer8
NM_001195798.1:c.875dup NP_001182727.1:p.Asp293GlyfsTer8
NM_001195799.1:c.752dup NP_001182728.1:p.Asp252GlyfsTer8
NM_001195800.1:c.371dup NP_001182729.1:p.Asp125GlyfsTer8
NM_001195803.1:c.494dup NP_001182732.1:p.Asp166GlyfsTer8
XM_011528010.1:c.875dup XP_011526312.1:p.Asp293GlyfsTer8
XM_011528011.1:c.494dup XP_011526313.1:p.Asp166GlyfsTer8
XR_244074.2:n.1025dup
XM_011528010.2:c.875dup XP_011526312.1:p.Asp293GlyfsTer8
XR_001753685.2:n.992dup
XR_001753686.2:n.992dup
NM_000527.5:c.875dup MANE Select NP_000518.1:p.Asp293GlyfsTer8
NM_001195798.2:c.875dup NP_001182727.1:p.Asp293GlyfsTer8
NM_001195799.2:c.752dup NP_001182728.1:p.Asp252GlyfsTer8
NM_001195800.2:c.371dup NP_001182729.1:p.Asp125GlyfsTer8
NM_001195803.2:c.494dup NP_001182732.1:p.Asp166GlyfsTer8
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