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"XP_011521284.1:p.Gln279_Pro581delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546838" }, { "coordinates": [ { "allele": "T", "end": 3237, "referenceAllele": "C", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023111.2:c.835C>T" ], "proteinEffect": { "hgvs": "XP_016878600.1:p.Gln279Ter", "hgvsWellDefined": "XP_016878600.1:p.Gln279_Leu511delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573926" }, { "coordinates": [ { "allele": "T", "end": 3237, "referenceAllele": "C", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023112.2:c.835C>T" ], "proteinEffect": { "hgvs": "XP_016878601.1:p.Gln279Ter", "hgvsWellDefined": "XP_016878601.1:p.Gln279_Thr508delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573927" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023113.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016878602.1:p.Gln88Ter", "hgvsWellDefined": "XP_016878602.1:p.Gln88_Pro390delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573928" }, { "@id": "http://reg.genome.network/allele/PA2825204615", "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.5:c.817C>T" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Gln273Ter", "hgvsWellDefined": "NP_000503.1:p.Gln273_His522delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.817C>T" }, "RefSeq": { "hgvs": "NM_000512.5:c.817C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Gln273Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Gln273Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573199964", "coordinates": [ { "allele": "T", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001310472.1:p.Gln88Ter", "hgvsWellDefined": "NP_001310472.1:p.Gln88_His337delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686042" }, { "@id": "http://reg.genome.network/allele/PA2827194370", "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "C", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.2:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Gln279Ter", "hgvsWellDefined": "NP_001310473.1:p.Gln279_His528delinsAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686043" } ], "type": "nucleotide" }