This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Leu520_Ser521insProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThr;Ser521_Pro522insThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArg;Pro522_Glu523insValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrVal;Glu523_Asp524insIleValThrMetSerHisGlnAlaLeuGly;Asp524_Met525insValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGln;Val526_Leu527insSer;Leu527_Phe528insGluAspAspValAlaTerVal;Ter683_Thr684insGlyThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer]