{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372065230", "communityStandardTitle": [ "NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3104238[alleleid]", "alleleId": 3104238, "preferredName": "NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2941893", "RCV": [ "RCV003802915" ], "variationId": 2941893 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.116599547C>T?assembly=hg19", "id": "chr8:g.116599547C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.115587320C>T?assembly=hg38", "id": "chr8:g.115587320C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2536861441", "rs": 2536861441 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 115587320, "referenceAllele": "C", "start": 115587319 } ], "hgvs": [ "NC_000008.11:g.115587320C>T", "CM000670.2:g.115587320C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 116599547, "referenceAllele": "C", "start": 116599546 } ], "hgvs": [ "NC_000008.10:g.116599547C>T", "CM000670.1:g.116599547C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 116668722, "referenceAllele": "C", "start": 116668721 } ], "hgvs": [ "NC_000008.9:g.116668722C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 86682, "referenceAllele": "G", "start": 86681 } ], "hgvs": [ "NG_012383.3:g.86682G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002387" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2933, "referenceAllele": "G", "start": 2932 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.8:c.2381G>A" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Trp794Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.2381G>A" }, "RefSeq": { "hgvs": "NM_014112.5:c.2381G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Trp794Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Trp794Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2483, "referenceAllele": "G", "start": 2482 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000640765.1:c.2342G>A" ], "proteinEffect": { "hgvs": "ENSP00000492037.1:p.Trp781Ter", "hgvsWellDefined": "ENSP00000492037.1:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765663" }, { "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "G", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000220888.9:c.2342G>A" ], "proteinEffect": { "hgvs": "ENSP00000220888.5:p.Trp781Ter", "hgvsWellDefined": "ENSP00000220888.5:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248249" }, { "coordinates": [ { "allele": "A", "end": 2959, "referenceAllele": "G", "start": 2958 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.7:c.2381G>A" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Trp794Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276851" }, { "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000517323.2:c.1754G>A" ], "proteinEffect": { "hgvs": "ENSP00000430803.2:p.Trp585Ter", "hgvsWellDefined": "ENSP00000430803.2:p.Trp585_Arg691del" }, "referenceSequence": "http://reg.genome.network/refseq/RS345031" }, { "coordinates": [ { "allele": "A", "end": 1616, "referenceAllele": "G", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519076.5:c.1604G>A" ], "proteinEffect": { "hgvs": "ENSP00000428910.1:p.Trp535Ter", "hgvsWellDefined": "ENSP00000428910.1:p.Trp535_Glu1035delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346388" }, { "coordinates": [ { "allele": "A", "end": 2703, "referenceAllele": "G", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519674.1:c.2342G>A" ], "proteinEffect": { "hgvs": "ENSP00000429174.1:p.Trp781Ter", "hgvsWellDefined": "ENSP00000429174.1:p.Trp781_Leu902delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346880" }, { "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000520276.5:c.2354G>A" ], "proteinEffect": { "hgvs": "ENSP00000428680.1:p.Trp785Ter", "hgvsWellDefined": "ENSP00000428680.1:p.Trp785_Glu1285delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347350" }, { "@id": "http://reg.genome.network/allele/PA2826672996", "coordinates": [ { "allele": "A", "end": 2483, "referenceAllele": "G", "start": 2482 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.2:c.2354G>A" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Trp785Ter", "hgvsWellDefined": "NP_001269831.1:p.Trp785_Glu1285delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022321" }, { "@id": "http://reg.genome.network/allele/PA2826673434", "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "G", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.2:c.2360G>A" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Trp787Ter", "hgvsWellDefined": "NP_001269832.1:p.Trp787_Glu1287delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022322" }, { "@id": "http://reg.genome.network/allele/PA2741941191", "coordinates": [ { "allele": "A", "end": 2986, "referenceAllele": "G", "start": 2985 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.4:c.2381G>A" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Trp794Ter", "hgvsWellDefined": "NP_054831.2:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032930" }, { "coordinates": [ { "allele": "A", "end": 2801, "referenceAllele": "G", "start": 2800 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_005251049.2:c.2342G>A" ], "proteinEffect": { "hgvs": "XP_005251106.1:p.Trp781Ter", "hgvsWellDefined": "XP_005251106.1:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059401" }, { "coordinates": [ { "allele": "A", "end": 2923, "referenceAllele": "G", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_006716625.1:c.2381G>A" ], "proteinEffect": { "hgvs": "XP_006716688.1:p.Trp794Ter", "hgvsWellDefined": "XP_006716688.1:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071772" }, { "coordinates": [ { "allele": "A", "end": 3056, "referenceAllele": "G", "start": 3055 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.1:c.2381G>A" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Trp794Ter", "hgvsWellDefined": "XP_011515566.1:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084463" }, { "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "G", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517265.1:c.2381G>A" ], "proteinEffect": { "hgvs": "XP_011515567.1:p.Trp794Ter", "hgvsWellDefined": "XP_011515567.1:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084464" }, { "coordinates": [ { "allele": "A", "end": 2738, "referenceAllele": "G", "start": 2737 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.1:c.2381G>A" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Trp794Ter", "hgvsWellDefined": "XP_011515568.1:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084465" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517267.1:c.2360G>A" ], "proteinEffect": { "hgvs": "XP_011515569.1:p.Trp787Ter", "hgvsWellDefined": "XP_011515569.1:p.Trp787_Glu1287delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084466" }, { "coordinates": [ { "allele": "A", "end": 2898, "referenceAllele": "G", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.1:c.2342G>A" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Trp781Ter", "hgvsWellDefined": "XP_011515570.1:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084467" }, { "@id": "http://reg.genome.network/allele/PA2827334742", "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "G", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.1:c.2342G>A" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Trp781Ter", "hgvsWellDefined": "NP_001317528.1:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516944" }, { "coordinates": [ { "allele": "A", "end": 3127, "referenceAllele": "G", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.2:c.2381G>A" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Trp794Ter", "hgvsWellDefined": "XP_011515566.1:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544481" }, { "coordinates": [ { "allele": "A", "end": 2795, "referenceAllele": "G", "start": 2794 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.3:c.2381G>A" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Trp794Ter", "hgvsWellDefined": "XP_011515568.1:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544482" }, { "coordinates": [ { "allele": "A", "end": 2969, "referenceAllele": "G", "start": 2968 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.2:c.2342G>A" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Trp781Ter", "hgvsWellDefined": "XP_011515570.1:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544483" }, { "@id": "http://reg.genome.network/allele/PA2826672996", "coordinates": [ { "allele": "A", "end": 2484, "referenceAllele": "G", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.2354G>A" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Trp785Ter", "hgvsWellDefined": "NP_001269831.1:p.Trp785_Glu1285delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673434", "coordinates": [ { "allele": "A", "end": 2919, "referenceAllele": "G", "start": 2918 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.3:c.2360G>A" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Trp787Ter", "hgvsWellDefined": "NP_001269832.1:p.Trp787_Glu1287delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681937" }, { "@id": "http://reg.genome.network/allele/PA2827334742", "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.2:c.2342G>A" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Trp781Ter", "hgvsWellDefined": "NP_001317528.1:p.Trp781_Glu1281delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687024" }, { "@id": "http://reg.genome.network/allele/PA2741941191", "coordinates": [ { "allele": "A", "end": 2933, "referenceAllele": "G", "start": 2932 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.5:c.2381G>A" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Trp794Ter", "hgvsWellDefined": "NP_054831.2:p.Trp794_Glu1294delinsThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697185", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.2381G>A" }, "RefSeq": { "hgvs": "NM_014112.5:c.2381G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Trp794Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Trp794Ter" } } } } ], "type": "nucleotide" }