Canonical Allele Identifier: CA10585796
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252245
ClinVar RCV Id: RCV000237666 RCV002429176
dbSNP Id: rs879255153
MyVariant Identifiers: chr19:g.11233876del (hg19) chr19:g.11123200del (hg38)
PubMed: PMID:11139254
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123200del , CM000681.2:g.11123200del GRCh38
NC_000019.9:g.11233876del , CM000681.1:g.11233876del GRCh37
NC_000019.8:g.11094876del NCBI36
NG_009060.1:g.38820del , LRG_274:g.38820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2425del ENSP00000252444.6:p.Glu809ArgfsTer7
ENST00000559340.2:c.*236del ENSP00000453696.2:n.*236del
ENST00000560467.2:c.2047del ENSP00000453513.2:p.Glu683ArgfsTer7
ENST00000558518.6:c.2167del MANE Select ENSP00000454071.1:p.Glu723ArgfsTer7
ENST00000252444.9:c.2421del
ENST00000455727.6:c.1663del ENSP00000397829.2:p.Glu555ArgfsTer7
ENST00000535915.5:c.2044del ENSP00000440520.1:p.Glu682ArgfsTer7
ENST00000545707.5:c.1633del ENSP00000437639.1:p.Glu545ArgfsTer7
ENST00000557933.5:c.2167del ENSP00000453557.1:p.Glu723ArgfsTer7
ENST00000558013.5:c.2167del ENSP00000453346.1:p.Glu723ArgfsTer7
ENST00000558518.5:c.2167del ENSP00000454071.1:p.Glu723ArgfsTer7
NM_000527.4:c.2167del , LRG_274t1:c.2167del NP_000518.1:p.Glu723ArgfsTer7
NM_001195798.1:c.2167del NP_001182727.1:p.Glu723ArgfsTer7
NM_001195799.1:c.2044del NP_001182728.1:p.Glu682ArgfsTer7
NM_001195800.1:c.1663del NP_001182729.1:p.Glu555ArgfsTer7
NM_001195803.1:c.1633del NP_001182732.1:p.Glu545ArgfsTer7
XM_011528010.1:c.2167del XP_011526312.1:p.Glu723ArgfsTer7
XM_011528011.1:c.1786del XP_011526313.1:p.Glu596ArgfsTer7
XR_244074.2:n.2177del
XM_011528010.2:c.2167del XP_011526312.1:p.Glu723ArgfsTer7
XR_001753685.2:n.2501del
XR_001753686.2:n.2144del
NM_000527.5:c.2167del MANE Select NP_000518.1:p.Glu723ArgfsTer7
NM_001195798.2:c.2167del NP_001182727.1:p.Glu723ArgfsTer7
NM_001195799.2:c.2044del NP_001182728.1:p.Glu682ArgfsTer7
NM_001195800.2:c.1663del NP_001182729.1:p.Glu555ArgfsTer7
NM_001195803.2:c.1633del NP_001182732.1:p.Glu545ArgfsTer7
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