Canonical Allele Identifier: CA2573155717
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1677968
ClinVar RCV Id: RCV002224559
dbSNP Id: rs2147217274
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102753del , CM000681.2:g.11102753del GRCh38
NC_000019.9:g.11213429del , CM000681.1:g.11213429del GRCh37
NC_000019.8:g.11074429del NCBI36
NG_009060.1:g.18373del , LRG_274:g.18373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.538del ENSP00000252444.6:p.Asp180ThrfsTer?
ENST00000559340.2:c.280del ENSP00000453696.2:p.Asp94ThrfsTer?
ENST00000560467.2:c.280del ENSP00000453513.2:p.Asp94ThrfsTer?
ENST00000558518.6:c.280del MANE Select ENSP00000454071.1:p.Asp94ThrfsTer?
ENST00000252444.9:c.534del
ENST00000455727.6:c.280del ENSP00000397829.2:p.Asp94ThrfsTer12
ENST00000535915.5:c.190+2408del ENSP00000440520.1:n.190+2408del
ENST00000545707.5:c.280del ENSP00000437639.1:p.Asp94ThrfsTer?
ENST00000557933.5:c.280del ENSP00000453557.1:p.Asp94ThrfsTer?
ENST00000557958.1:n.366del
ENST00000558013.5:c.280del ENSP00000453346.1:p.Asp94ThrfsTer?
ENST00000558518.5:c.280del ENSP00000454071.1:p.Asp94ThrfsTer?
NM_000527.4:c.280del , LRG_274t1:c.280del NP_000518.1:p.Asp94ThrfsTer?
NM_001195798.1:c.280del NP_001182727.1:p.Asp94ThrfsTer?
NM_001195799.1:c.190+2408del NP_001182728.1:n.190+2408del
NM_001195800.1:c.280del NP_001182729.1:p.Asp94ThrfsTer12
NM_001195803.1:c.280del NP_001182732.1:p.Asp94ThrfsTer?
XM_011528010.1:c.280del XP_011526312.1:p.Asp94ThrfsTer?
XM_011528011.1:c.280del XP_011526313.1:p.Asp94ThrfsTer?
XR_244074.2:n.430del
XM_011528010.2:c.280del XP_011526312.1:p.Asp94ThrfsTer?
XR_001753685.2:n.397del
XR_001753686.2:n.397del
NM_000527.5:c.280del MANE Select NP_000518.1:p.Asp94ThrfsTer?
NM_001195798.2:c.280del NP_001182727.1:p.Asp94ThrfsTer?
NM_001195799.2:c.190+2408del NP_001182728.1:n.190+2408del
NM_001195800.2:c.280del NP_001182729.1:p.Asp94ThrfsTer12
NM_001195803.2:c.280del NP_001182732.1:p.Asp94ThrfsTer?
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