{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351113069", "communityStandardTitle": [ "NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2831783[alleleid]", "alleleId": 2831783, "preferredName": "NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2664327", "RCV": [ "RCV003445432" ], "variationId": 2664327 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.223160265G>A?assembly=hg19", "id": "chr2:g.223160265G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.222295546G>A?assembly=hg38", "id": "chr2:g.222295546G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1695251013", "rs": 1695251013 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 222295546, "referenceAllele": "G", "start": 222295545 } ], "hgvs": [ "NC_000002.12:g.222295546G>A", "CM000664.2:g.222295546G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 223160265, "referenceAllele": "G", "start": 223160264 } ], "hgvs": [ "NC_000002.11:g.223160265G>A", "CM000664.1:g.223160265G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 222868509, "referenceAllele": "G", "start": 222868508 } ], "hgvs": [ "NC_000002.10:g.222868509G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 8436, "referenceAllele": "C", "start": 8435 } ], "hgvs": [ "NG_011632.1:g.8436C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001867" }, { "coordinates": [ { "allele": "A", "end": 2400, "referenceAllele": "G", "start": 2399 } ], "hgvs": [ "NG_021186.1:g.2400G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003465" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000258387.6:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000258387.5:p.Arg145Ter", "hgvsWellDefined": "ENSP00000258387.5:p.Arg145_His206delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741897" }, { "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000336840.11:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000338767.5:p.Arg145Ter", "hgvsWellDefined": "ENSP00000338767.5:p.Arg145_Phe407delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747615" }, { "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000344493.9:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000342092.4:p.Arg145Ter", "hgvsWellDefined": "ENSP00000342092.4:p.Arg145_Lys403delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748220" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000350526.9:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000343052.4:p.Arg145Ter", "hgvsWellDefined": "ENSP00000343052.4:p.Arg145_Phe479delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748437" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000392070.7:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000375922.3:p.Arg145Ter", "hgvsWellDefined": "ENSP00000375922.3:p.Arg145_Ala484delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752964", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392070.7:c.433C>T" }, "RefSeq": { "hgvs": "NM_181458.4:c.433C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375922.3:p.Arg145Ter" }, "RefSeq": { "hgvs": "NP_852123.1:p.Arg145Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000647467.1:n.814C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769430" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000258387.5:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000258387.5:p.Arg145Ter", "hgvsWellDefined": "ENSP00000258387.5:p.Arg145_His206delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250374" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000336840.10:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000338767.5:p.Arg145Ter", "hgvsWellDefined": "ENSP00000338767.5:p.Arg145_Phe407delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260377" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000344493.8:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000342092.4:p.Arg145Ter", "hgvsWellDefined": "ENSP00000342092.4:p.Arg145_Lys403delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261985" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000350526.8:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000343052.4:p.Arg145Ter", "hgvsWellDefined": "ENSP00000343052.4:p.Arg145_Phe479delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262693" }, { "coordinates": [ { "allele": "T", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000392069.6:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000375921.2:p.Arg145Ter", "hgvsWellDefined": "ENSP00000375921.2:p.Arg145_Gln505delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274907" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000392070.6:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000375922.2:p.Arg145Ter", "hgvsWellDefined": "ENSP00000375922.2:p.Arg145_Ala484delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274908" }, { "coordinates": [ { "allele": "T", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000409551.7:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000386750.3:p.Arg144Ter", "hgvsWellDefined": "ENSP00000386750.3:p.Arg144_Ala483delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281647" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000409828.7:c.433C>T" ], "proteinEffect": { "hgvs": "ENSP00000386817.3:p.Arg145Ter", "hgvsWellDefined": "ENSP00000386817.3:p.Arg145_Ser215delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysArgTrpArgLeuGlyArgArgThrCysTrpValThrTrpArgAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281884" }, { "@id": "http://reg.genome.network/allele/PA2825170850", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_000438.5:c.433C>T" ], "proteinEffect": { "hgvs": "NP_000429.2:p.Arg145Ter", "hgvsWellDefined": "NP_000429.2:p.Arg145_Ser215delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysArgTrpArgLeuGlyArgArgThrCysTrpValThrTrpArgAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006500" }, { "@id": "http://reg.genome.network/allele/PA2825603891", "coordinates": [ { "allele": "T", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.2:c.430C>T" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Arg144Ter", "hgvsWellDefined": "NP_001120838.1:p.Arg144_Ala483delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011592" }, { "@id": "http://reg.genome.network/allele/PA2829745924", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_013942.4:c.433C>T" ], "proteinEffect": { "hgvs": "NP_039230.1:p.Arg145Ter", "hgvsWellDefined": "NP_039230.1:p.Arg145_His206delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032828" }, { "@id": "http://reg.genome.network/allele/PA2830388710", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.3:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Arg145Ter", "hgvsWellDefined": "NP_852122.1:p.Arg145_Phe479delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043713" }, { "@id": "http://reg.genome.network/allele/PA2830389008", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.3:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Arg145Ter", "hgvsWellDefined": "NP_852123.1:p.Arg145_Ala484delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043714" }, { "@id": "http://reg.genome.network/allele/PA2830389404", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.3:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Arg145Ter", "hgvsWellDefined": "NP_852124.1:p.Arg145_Gln505delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043715" }, { "@id": "http://reg.genome.network/allele/PA2830389696", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.3:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Arg145Ter", "hgvsWellDefined": "NP_852125.1:p.Arg145_Phe407delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043716" }, { "@id": "http://reg.genome.network/allele/PA2742024011", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.3:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Arg145Ter", "hgvsWellDefined": "NP_852126.1:p.Arg145_Lys403delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043717" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511278.1:c.577C>T" ], "proteinEffect": { "hgvs": "XP_011509580.1:p.Arg193Ter", "hgvsWellDefined": "XP_011509580.1:p.Arg193_Gln553delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078539" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511280.1:c.577C>T" ], "proteinEffect": { "hgvs": "XP_011509582.1:p.Arg193Ter", "hgvsWellDefined": "XP_011509582.1:p.Arg193_Val263delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGluProIleAlaTrpArgGlyArgTrpSerHisGluGlnIleThrThrIleSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078541" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511281.1:c.577C>T" ], "proteinEffect": { "hgvs": "XP_011509583.1:p.Arg193Ter", "hgvsWellDefined": "XP_011509583.1:p.Arg193_His254delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078542" }, { "@id": "http://reg.genome.network/allele/PA2825170850", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_000438.6:c.433C>T" ], "proteinEffect": { "hgvs": "NP_000429.2:p.Arg145Ter", "hgvsWellDefined": "NP_000429.2:p.Arg145_Ser215delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysArgTrpArgLeuGlyArgArgThrCysTrpValThrTrpArgAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674846" }, { "@id": "http://reg.genome.network/allele/PA2825603891", "coordinates": [ { "allele": "T", "end": 813, "referenceAllele": "C", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.3:c.430C>T" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Arg144Ter", "hgvsWellDefined": "NP_001120838.1:p.Arg144_Ala483delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676873" }, { "@id": "http://reg.genome.network/allele/PA2829745924", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_013942.5:c.433C>T" ], "proteinEffect": { "hgvs": "NP_039230.1:p.Arg145Ter", "hgvsWellDefined": "NP_039230.1:p.Arg145_His206delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697142" }, { "@id": "http://reg.genome.network/allele/PA2830388710", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.4:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Arg145Ter", "hgvsWellDefined": "NP_852122.1:p.Arg145_Phe479delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700946" }, { "@id": "http://reg.genome.network/allele/PA2830389008", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.4:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Arg145Ter", "hgvsWellDefined": "NP_852123.1:p.Arg145_Ala484delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700947", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392070.7:c.433C>T" }, "RefSeq": { "hgvs": "NM_181458.4:c.433C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375922.3:p.Arg145Ter" }, "RefSeq": { "hgvs": "NP_852123.1:p.Arg145Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830389404", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.4:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Arg145Ter", "hgvsWellDefined": "NP_852124.1:p.Arg145_Gln505delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700948" }, { "@id": "http://reg.genome.network/allele/PA2830389696", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.4:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Arg145Ter", "hgvsWellDefined": "NP_852125.1:p.Arg145_Phe407delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700949" }, { "@id": "http://reg.genome.network/allele/PA2742024011", "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.4:c.433C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Arg145Ter", "hgvsWellDefined": "NP_852126.1:p.Arg145_Lys403delinsAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700950" } ], "type": "nucleotide" }