Canonical Allele Identifier: CA2830773970
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129667del , CM000681.2:g.11129667del GRCh38
NC_000019.9:g.11240343del , CM000681.1:g.11240343del GRCh37
NC_000019.8:g.11101343del NCBI36
NG_009060.1:g.45287del , LRG_274:g.45287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2802del ENSP00000252444.6:p.Ser935ArgfsTer?
ENST00000559340.2:c.*613del ENSP00000453696.2:n.*613del
ENST00000560467.2:c.2424del ENSP00000453513.2:p.Ser809ArgfsTer?
ENST00000558518.6:c.2544del MANE Select ENSP00000454071.1:p.Ser849ArgfsTer?
ENST00000252444.9:c.2798del
ENST00000455727.6:c.2040del ENSP00000397829.2:p.Ser681ArgfsTer?
ENST00000535915.5:c.2421del ENSP00000440520.1:p.Ser808ArgfsTer?
ENST00000545707.5:c.2010del ENSP00000437639.1:p.Ser671ArgfsTer?
ENST00000557933.5:c.2606del ENSP00000453557.1:p.Pro869LeufsTer10
ENST00000558013.5:c.2544del ENSP00000453346.1:p.Ser849ArgfsTer?
ENST00000558518.5:c.2544del ENSP00000454071.1:p.Ser849ArgfsTer?
ENST00000560628.1:n.108+2013del
NM_000527.4:c.2544del , LRG_274t1:c.2544del NP_000518.1:p.Ser849ArgfsTer?
NM_001195798.1:c.2544del NP_001182727.1:p.Ser849ArgfsTer?
NM_001195799.1:c.2421del NP_001182728.1:p.Ser808ArgfsTer?
NM_001195800.1:c.2040del NP_001182729.1:p.Ser681ArgfsTer?
NM_001195803.1:c.2010del NP_001182732.1:p.Ser671ArgfsTer?
XM_011528010.1:c.2466del XP_011526312.1:p.Ser823ArgfsTer?
XM_011528011.1:c.2163del XP_011526313.1:p.Ser722ArgfsTer?
XM_011528010.2:c.2466del XP_011526312.1:p.Ser823ArgfsTer?
XR_001753685.2:n.2878del
XR_001753686.2:n.2521del
NM_000527.5:c.2544del MANE Select NP_000518.1:p.Ser849ArgfsTer?
NM_001195798.2:c.2544del NP_001182727.1:p.Ser849ArgfsTer?
NM_001195799.2:c.2421del NP_001182728.1:p.Ser808ArgfsTer?
NM_001195800.2:c.2040del NP_001182729.1:p.Ser681ArgfsTer?
NM_001195803.2:c.2010del NP_001182732.1:p.Ser671ArgfsTer?
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