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"NP_958780.1:p.Ser4355Ter", "hgvsWellDefined": "NP_958780.1:p.Ser4355_Ala4533delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.13064C>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.13064C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Ser4355Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Ser4355Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830487850", "coordinates": [ { "allele": "A", "end": 13103, "referenceAllele": "C", "start": 13102 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.13040C>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Ser4347Ter", "hgvsWellDefined": "NP_958781.1:p.Ser4347_Ala4525delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA2499305010", "coordinates": [ { "allele": "A", "end": 13737, "referenceAllele": "C", "start": 13736 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.13517C>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Ser4506Ter", "hgvsWellDefined": "NP_958782.1:p.Ser4506_Ala4684delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830494239", "coordinates": [ { "allele": "A", "end": 13117, "referenceAllele": "C", "start": 13116 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.13010C>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Ser4337Ter", "hgvsWellDefined": "NP_958783.1:p.Ser4337_Ala4515delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830498875", "coordinates": [ { "allele": "A", "end": 13201, "referenceAllele": "C", "start": 13200 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.13106C>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Ser4369Ter", "hgvsWellDefined": "NP_958784.1:p.Ser4369_Ala4547delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830503485", "coordinates": [ { "allele": "A", "end": 13227, "referenceAllele": "C", "start": 13226 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.13118C>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Ser4373Ter", "hgvsWellDefined": "NP_958785.1:p.Ser4373_Ala4551delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830508119", "coordinates": [ { "allele": "A", "end": 13242, "referenceAllele": "C", "start": 13241 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.13106C>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Ser4369Ter", "hgvsWellDefined": "NP_958786.1:p.Ser4369_Ala4547delinsAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.13106C>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.13106C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Ser4369Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Ser4369Ter" } } } } ], "type": "nucleotide" }