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"geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.2144G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "@id": "http://reg.genome.network/allele/PA645380469", "coordinates": [ { "allele": "T", "end": 2253, "referenceAllele": "G", "start": 2252 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.2167G>T" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Glu723Ter", "hgvsWellDefined": "NP_000518.1:p.Glu723_Ala860delinsThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674880", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.2167G>T" }, "RefSeq": { "hgvs": "NM_000527.5:c.2167G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Glu723Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Glu723Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916001129", "coordinates": [ { "allele": "T", "end": 2253, "referenceAllele": "G", "start": 2252 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.2167G>T" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Glu723Ter", "hgvsWellDefined": "NP_001182727.1:p.Glu723_Ala858delinsThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "@id": "http://reg.genome.network/allele/PA2826213938", "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "G", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.2044G>T" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Glu682Ter", "hgvsWellDefined": "NP_001182728.1:p.Glu682_Ala819delinsThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "@id": "http://reg.genome.network/allele/PA2826215715", "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.1663G>T" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Glu555Ter", "hgvsWellDefined": "NP_001182729.1:p.Glu555_Ala692delinsThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "@id": "http://reg.genome.network/allele/PA2826217278", "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "G", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.1633G>T" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Glu545Ter", "hgvsWellDefined": "NP_001182732.1:p.Glu545_Ala682delinsThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }