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"NP_000269.3:p.Glu291_His394delinsLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674773", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355243.8:c.871G>T" }, "RefSeq": { "hgvs": "NM_000278.5:c.871G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347385.3:p.Glu291Ter" }, "RefSeq": { "hgvs": "NP_000269.3:p.Glu291Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741854946", "coordinates": [ { "allele": "T", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_001304569.2:c.964G>T" ], "proteinEffect": { "hgvs": "NP_001291498.1:p.Glu322Ter", "hgvsWellDefined": "NP_001291498.1:p.Glu322_His425delinsLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683727" }, { "@id": "http://reg.genome.network/allele/PA2829479602", "coordinates": [ { "allele": "T", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.5:c.940G>T" ], "proteinEffect": { "hgvs": "NP_003978.3:p.Glu314Ter", "hgvsWellDefined": "NP_003978.3:p.Glu314_His417delinsLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696006" }, { "@id": "http://reg.genome.network/allele/PA2829479936", "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "G", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.5:c.871G>T" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Glu291Ter", "hgvsWellDefined": "NP_003979.2:p.Glu291_Tyr396delinsLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696007" }, { "@id": "http://reg.genome.network/allele/PA2829480311", "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "G", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.5:c.871G>T" ], "proteinEffect": { "hgvs": "NP_003980.3:p.Glu291Ter", "hgvsWellDefined": "NP_003980.3:p.Glu291_Val409delinsLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696008" }, { "@id": "http://reg.genome.network/allele/PA2829480581", "coordinates": [ { "allele": "T", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.5:c.940G>T" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Glu314Ter", "hgvsWellDefined": "NP_003981.3:p.Glu314_Val432delinsLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696009" } ], "type": "nucleotide" }