Canonical Allele Identifier: CA10654842
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369870
dbSNP Id: rs1057516132

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105246_11105250del , CM000681.2:g.11105246_11105250del GRCh38
NC_000019.9:g.11215922_11215926del , CM000681.1:g.11215922_11215926del GRCh37
NC_000019.8:g.11076922_11076926del NCBI36
NG_009060.1:g.20866_20870del , LRG_274:g.20866_20870del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.598_602del ENSP00000252444.6:p.Phe200LeufsTer14
ENST00000559340.2:c.340_344del ENSP00000453696.2:p.Phe114LeufsTer14
ENST00000560467.2:c.340_344del ENSP00000453513.2:p.Phe114LeufsTer14
ENST00000558518.6:c.340_344del MANE Select ENSP00000454071.1:p.Phe114LeufsTer14
ENST00000252444.9:c.594_598del
ENST00000455727.6:c.314-2146_314-2142del ENSP00000397829.2:n.314-2146_314-2142del
ENST00000535915.5:c.217_221del ENSP00000440520.1:p.Phe73LeufsTer14
ENST00000545707.5:c.314-1319_314-1315del ENSP00000437639.1:n.314-1319_314-1315del
ENST00000557933.5:c.340_344del ENSP00000453557.1:p.Phe114LeufsTer14
ENST00000558013.5:c.340_344del ENSP00000453346.1:p.Phe114LeufsTer14
ENST00000558518.5:c.340_344del ENSP00000454071.1:p.Phe114LeufsTer14
NM_000527.4:c.340_344del , LRG_274t1:c.340_344del NP_000518.1:p.Phe114LeufsTer14
NM_001195798.1:c.340_344del NP_001182727.1:p.Phe114LeufsTer14
NM_001195799.1:c.217_221del NP_001182728.1:p.Phe73LeufsTer14
NM_001195800.1:c.314-2146_314-2142del NP_001182729.1:n.314-2146_314-2142del
NM_001195803.1:c.314-1319_314-1315del NP_001182732.1:n.314-1319_314-1315del
XM_011528010.1:c.340_344del XP_011526312.1:p.Phe114LeufsTer14
XM_011528011.1:c.314-1319_314-1315del XP_011526313.1:n.314-1319_314-1315del
XR_244074.2:n.490_494del
XM_011528010.2:c.340_344del XP_011526312.1:p.Phe114LeufsTer14
XR_001753685.2:n.457_461del
XR_001753686.2:n.457_461del
NM_000527.5:c.340_344del MANE Select NP_000518.1:p.Phe114LeufsTer14
NM_001195798.2:c.340_344del NP_001182727.1:p.Phe114LeufsTer14
NM_001195799.2:c.217_221del NP_001182728.1:p.Phe73LeufsTer14
NM_001195800.2:c.314-2146_314-2142del NP_001182729.1:n.314-2146_314-2142del
NM_001195803.2:c.314-1319_314-1315del NP_001182732.1:n.314-1319_314-1315del