Canonical Allele Identifier: CA1139666290
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 922997
ClinVar RCV Id: RCV001183380
dbSNP Id: rs2077268697

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105276_11105277delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT , CM000681.2:g.11105276_11105277delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT GRCh38
NC_000019.9:g.11215952_11215953delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT , CM000681.1:g.11215952_11215953delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT GRCh37
NC_000019.8:g.11076952_11076953delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NCBI36
NG_009060.1:g.20896_20897delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT , LRG_274:g.20896_20897delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.628_629delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000252444.6:p.Arg210delinsAlaThrMetGlySerAlaSerLeuProAr...
ENST00000559340.2:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000453696.2:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProAr...
ENST00000560467.2:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000453513.2:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProAr...
ENST00000558518.6:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT MANE Select ENSP00000454071.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProAr...
ENST00000252444.9:c.624_625delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
ENST00000455727.6:c.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000397829.2:n.314-2116_314-2115delinsGCCACGATGGGAAGTGCA...
ENST00000535915.5:c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000440520.1:p.Arg83delinsAlaThrMetGlySerAlaSerLeuProArg...
ENST00000545707.5:c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000437639.1:n.314-1289_314-1288delinsGCCACGATGGGAAGTGCA...
ENST00000557933.5:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000453557.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProAr...
ENST00000558013.5:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000453346.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProAr...
ENST00000558518.5:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT ENSP00000454071.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProAr...
NM_000527.4:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT , LRG_274t1:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_000518.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGl...
NM_001195798.1:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182727.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTr...
NM_001195799.1:c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182728.1:p.Arg83delinsAlaThrMetGlySerAlaSerLeuProArgTrp...
NM_001195800.1:c.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182729.1:n.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCG...
NM_001195803.1:c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182732.1:n.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCG...
XM_011528010.1:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT XP_011526312.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTr...
XM_011528011.1:c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT XP_011526313.1:n.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCG...
XR_244074.2:n.520_521delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
XM_011528010.2:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT XP_011526312.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTr...
XR_001753685.2:n.487_488delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
XR_001753686.2:n.487_488delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
NM_000527.5:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT MANE Select NP_000518.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGl...
NM_001195798.2:c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182727.1:p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTr...
NM_001195799.2:c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182728.1:p.Arg83delinsAlaThrMetGlySerAlaSerLeuProArgTrp...
NM_001195800.2:c.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182729.1:n.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCG...
NM_001195803.2:c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT NP_001182732.1:n.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCG...