Canonical Allele Identifier: CA645509300
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438330
dbSNP Id: rs879255201

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129530_11129547del , CM000681.2:g.11129530_11129547del GRCh38
NC_000019.9:g.11240206_11240223del , CM000681.1:g.11240206_11240223del GRCh37
NC_000019.8:g.11101206_11101223del NCBI36
NG_009060.1:g.45150_45167del , LRG_274:g.45150_45167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2665_2682del ENSP00000252444.6:p.Cys889_Leu894del
ENST00000559340.2:c.*476_*493del ENSP00000453696.2:n.*476_*493del
ENST00000560467.2:c.2287_2304del ENSP00000453513.2:p.Cys763_Leu768del
ENST00000558518.6:c.2407_2424del MANE Select ENSP00000454071.1:p.Cys803_Leu808del
ENST00000252444.9:c.2661_2678del
ENST00000455727.6:c.1903_1920del ENSP00000397829.2:p.Cys635_Leu640del
ENST00000535915.5:c.2284_2301del ENSP00000440520.1:p.Cys762_Leu767del
ENST00000545707.5:c.1873_1890del ENSP00000437639.1:p.Cys625_Leu630del
ENST00000557933.5:c.2469_2486del ENSP00000453557.1:p.Ala824_Phe829del
ENST00000558013.5:c.2407_2424del ENSP00000453346.1:p.Cys803_Leu808del
ENST00000558518.5:c.2407_2424del ENSP00000454071.1:p.Cys803_Leu808del
ENST00000560628.1:n.108+1876_108+1893del
NM_000527.4:c.2407_2424del , LRG_274t1:c.2407_2424del NP_000518.1:p.Cys803_Leu808del
NM_001195798.1:c.2407_2424del NP_001182727.1:p.Cys803_Leu808del
NM_001195799.1:c.2284_2301del NP_001182728.1:p.Cys762_Leu767del
NM_001195800.1:c.1903_1920del NP_001182729.1:p.Cys635_Leu640del
NM_001195803.1:c.1873_1890del NP_001182732.1:p.Cys625_Leu630del
XM_011528010.1:c.2329_2346del XP_011526312.1:p.Cys777_Leu782del
XM_011528011.1:c.2026_2043del XP_011526313.1:p.Cys676_Leu681del
XR_244074.2:n.2417_2434del
XM_011528010.2:c.2329_2346del XP_011526312.1:p.Cys777_Leu782del
XR_001753685.2:n.2741_2758del
XR_001753686.2:n.2384_2401del
NM_000527.5:c.2407_2424del MANE Select NP_000518.1:p.Cys803_Leu808del
NM_001195798.2:c.2407_2424del NP_001182727.1:p.Cys803_Leu808del
NM_001195799.2:c.2284_2301del NP_001182728.1:p.Cys762_Leu767del
NM_001195800.2:c.1903_1920del NP_001182729.1:p.Cys635_Leu640del
NM_001195803.2:c.1873_1890del NP_001182732.1:p.Cys625_Leu630del