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"http://reg.genome.network/allele/PA2830389443", "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.3:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Ser201Ter", "hgvsWellDefined": "NP_852124.1:p.Ser201_Gln505delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043715" }, { "@id": "http://reg.genome.network/allele/PA2830389730", "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.3:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Ser201Ter", "hgvsWellDefined": "NP_852125.1:p.Ser201_Phe407delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043716" }, { "@id": "http://reg.genome.network/allele/PA916077421", "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.3:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Ser201Ter", "hgvsWellDefined": "NP_852126.1:p.Ser201_Lys403delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043717" }, { "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511278.1:c.746C>A" ], "proteinEffect": { "hgvs": "XP_011509580.1:p.Ser249Ter", "hgvsWellDefined": "XP_011509580.1:p.Ser249_Gln553delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078539" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "C", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511279.1:c.38C>A" ], "proteinEffect": { "hgvs": "XP_011509581.1:p.Ser13Ter", "hgvsWellDefined": "XP_011509581.1:p.Ser13_Gln317delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078540" }, { "coordinates": [ { "allele": "T", "end": 287, "endIntronDirection": "+", "endIntronOffset": 10298, "referenceAllele": "G", "start": 287, "startIntronDirection": "+", "startIntronOffset": 10297 } ], "hgvs": [ "XR_923945.1:n.287+10298G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121005" }, { "@id": "http://reg.genome.network/allele/PA2825603930", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.3:c.599C>A" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Ser200Ter", "hgvsWellDefined": "NP_001120838.1:p.Ser200_Ala483delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676873" }, { "@id": "http://reg.genome.network/allele/PA645376827", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.4:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Ser201Ter", "hgvsWellDefined": "NP_852122.1:p.Ser201_Phe479delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700946" }, { "@id": "http://reg.genome.network/allele/PA2830389066", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.4:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Ser201Ter", "hgvsWellDefined": "NP_852123.1:p.Ser201_Ala484delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700947", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392070.7:c.602C>A" }, "RefSeq": { "hgvs": "NM_181458.4:c.602C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375922.3:p.Ser201Ter" }, "RefSeq": { "hgvs": "NP_852123.1:p.Ser201Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830389443", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.4:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Ser201Ter", "hgvsWellDefined": "NP_852124.1:p.Ser201_Gln505delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700948" }, { "@id": "http://reg.genome.network/allele/PA2830389730", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.4:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Ser201Ter", "hgvsWellDefined": "NP_852125.1:p.Ser201_Phe407delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700949" }, { "@id": "http://reg.genome.network/allele/PA916077421", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.4:c.602C>A" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Ser201Ter", "hgvsWellDefined": "NP_852126.1:p.Ser201_Lys403delinsAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700950" } ], "type": "nucleotide" }