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"referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.3:c.790C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Gln264Ter", "hgvsWellDefined": "NP_852126.1:p.Gln264_Lys403delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043717" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511278.1:c.934C>T" ], "proteinEffect": { "hgvs": "XP_011509580.1:p.Gln312Ter", "hgvsWellDefined": "XP_011509580.1:p.Gln312_Gln553delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078539" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511279.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_011509581.1:p.Gln76Ter", "hgvsWellDefined": "XP_011509581.1:p.Gln76_Gln317delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078540" }, { "coordinates": [ { "allele": "A", "end": 287, "endIntronDirection": "+", "endIntronOffset": 10110, "referenceAllele": "G", "start": 287, "startIntronDirection": "+", "startIntronOffset": 10109 } ], "hgvs": [ "XR_923945.1:n.287+10110G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121005" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "G", "start": 355 } ], "hgvs": [ "XR_923946.1:n.356G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121006" }, { "@id": "http://reg.genome.network/allele/PA2825603974", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.3:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Gln263Ter", "hgvsWellDefined": "NP_001120838.1:p.Gln263_Ala483delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676873" }, { "@id": "http://reg.genome.network/allele/PA2830388770", "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.4:c.790C>T" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Gln264Ter", "hgvsWellDefined": "NP_852122.1:p.Gln264_Phe479delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700946" }, { "@id": "http://reg.genome.network/allele/PA2830389124", "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.4:c.790C>T" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Gln264Ter", "hgvsWellDefined": "NP_852123.1:p.Gln264_Ala484delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700947", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392070.7:c.790C>T" }, "RefSeq": { "hgvs": "NM_181458.4:c.790C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375922.3:p.Gln264Ter" }, "RefSeq": { "hgvs": "NP_852123.1:p.Gln264Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA658807041", "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.4:c.790C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Gln264Ter", "hgvsWellDefined": "NP_852124.1:p.Gln264_Gln505delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700948" }, { "@id": "http://reg.genome.network/allele/PA2830389766", "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.4:c.790C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Gln264Ter", "hgvsWellDefined": "NP_852125.1:p.Gln264_Phe407delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700949" }, { "@id": "http://reg.genome.network/allele/PA916077432", "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.4:c.790C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Gln264Ter", "hgvsWellDefined": "NP_852126.1:p.Gln264_Lys403delinsValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700950" } ], "type": "nucleotide" }