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"NP_003980.3:p.Ser262_Val409delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525160" }, { "@id": "http://reg.genome.network/allele/PA2829480563", "coordinates": [ { "allele": "A", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.4:c.854C>A" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Ser285Ter", "hgvsWellDefined": "NP_003981.3:p.Ser285_Val432delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525161" }, { "@id": "http://reg.genome.network/allele/PA2825138479", "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_000278.5:c.785C>A" ], "proteinEffect": { "hgvs": "NP_000269.3:p.Ser262Ter", "hgvsWellDefined": "NP_000269.3:p.Ser262_His394delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674773", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355243.8:c.785C>A" }, "RefSeq": { "hgvs": "NM_000278.5:c.785C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347385.3:p.Ser262Ter" }, "RefSeq": { "hgvs": "NP_000269.3:p.Ser262Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573196292", "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "C", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_001304569.2:c.878C>A" ], "proteinEffect": { "hgvs": "NP_001291498.1:p.Ser293Ter", "hgvsWellDefined": "NP_001291498.1:p.Ser293_His425delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683727" }, { "@id": "http://reg.genome.network/allele/PA2829479584", "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.5:c.854C>A" ], "proteinEffect": { "hgvs": "NP_003978.3:p.Ser285Ter", "hgvsWellDefined": "NP_003978.3:p.Ser285_His417delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696006" }, { "@id": "http://reg.genome.network/allele/PA2829479914", "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.5:c.785C>A" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Ser262Ter", "hgvsWellDefined": "NP_003979.2:p.Ser262_Tyr396delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696007" }, { "@id": "http://reg.genome.network/allele/PA2829480296", "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.5:c.785C>A" ], "proteinEffect": { "hgvs": "NP_003980.3:p.Ser262Ter", "hgvsWellDefined": "NP_003980.3:p.Ser262_Val409delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696008" }, { "@id": "http://reg.genome.network/allele/PA2829480563", "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.5:c.854C>A" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Ser285Ter", "hgvsWellDefined": "NP_003981.3:p.Ser285_Val432delinsGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696009" } ], "type": "nucleotide" }