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"XP_016878602.1:p.Gln189_Pro390delinsGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573928" }, { "@id": "http://reg.genome.network/allele/PA2825204785", "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.5:c.1120C>T" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Gln374Ter", "hgvsWellDefined": "NP_000503.1:p.Gln374_His522delinsGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.1120C>T" }, "RefSeq": { "hgvs": "NM_000512.5:c.1120C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Gln374Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Gln374Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827194028", "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.2:c.565C>T" ], "proteinEffect": { "hgvs": "NP_001310472.1:p.Gln189Ter", "hgvsWellDefined": "NP_001310472.1:p.Gln189_His337delinsGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686042" }, { "@id": "http://reg.genome.network/allele/PA2499249176", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.2:c.1138C>T" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Gln380Ter", "hgvsWellDefined": "NP_001310473.1:p.Gln380_His528delinsGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686043" } ], "type": "nucleotide" }