Canonical Allele Identifier: CA10585394
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251776
ClinVar RCV Id: RCV000238434
dbSNP Id: rs879254857

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113394del , CM000681.2:g.11113394del GRCh38
NC_000019.9:g.11224070del , CM000681.1:g.11224070del GRCh37
NC_000019.8:g.11085070del NCBI36
NG_009060.1:g.29014del , LRG_274:g.29014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1561del ENSP00000252444.6:p.Glu521ArgfsTer16
ENST00000559340.2:c.1303del ENSP00000453696.2:p.Glu435ArgfsTer16
ENST00000560467.2:c.1183del ENSP00000453513.2:p.Glu395ArgfsTer16
ENST00000558518.6:c.1303del MANE Select ENSP00000454071.1:p.Glu435ArgfsTer16
ENST00000252444.9:c.1557del
ENST00000455727.6:c.799del ENSP00000397829.2:p.Glu267ArgfsTer16
ENST00000535915.5:c.1180del ENSP00000440520.1:p.Glu394ArgfsTer16
ENST00000545707.5:c.922del ENSP00000437639.1:p.Glu308ArgfsTer16
ENST00000557933.5:c.1303del ENSP00000453557.1:p.Glu435ArgfsTer16
ENST00000558013.5:c.1303del ENSP00000453346.1:p.Glu435ArgfsTer16
ENST00000558518.5:c.1303del ENSP00000454071.1:p.Glu435ArgfsTer16
ENST00000559340.1:c.24del
ENST00000560173.1:n.302del
ENST00000560467.1:c.783del
NM_000527.4:c.1303del , LRG_274t1:c.1303del NP_000518.1:p.Glu435ArgfsTer16
NM_001195798.1:c.1303del NP_001182727.1:p.Glu435ArgfsTer16
NM_001195799.1:c.1180del NP_001182728.1:p.Glu394ArgfsTer16
NM_001195800.1:c.799del NP_001182729.1:p.Glu267ArgfsTer16
NM_001195803.1:c.922del NP_001182732.1:p.Glu308ArgfsTer16
XM_011528010.1:c.1303del XP_011526312.1:p.Glu435ArgfsTer16
XM_011528011.1:c.922del XP_011526313.1:p.Glu308ArgfsTer16
XR_244074.2:n.1453del
XM_011528010.2:c.1303del XP_011526312.1:p.Glu435ArgfsTer16
XR_001753685.2:n.1420del
XR_001753686.2:n.1420del
NM_000527.5:c.1303del MANE Select NP_000518.1:p.Glu435ArgfsTer16
NM_001195798.2:c.1303del NP_001182727.1:p.Glu435ArgfsTer16
NM_001195799.2:c.1180del NP_001182728.1:p.Glu394ArgfsTer16
NM_001195800.2:c.799del NP_001182729.1:p.Glu267ArgfsTer16
NM_001195803.2:c.922del NP_001182732.1:p.Glu308ArgfsTer16