{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372067515", "communityStandardTitle": [ "NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1468229[alleleid]", "alleleId": 1468229, "preferredName": "NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1458518", "RCV": [ "RCV001949526" ], "variationId": 1458518 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.116616809T>A?assembly=hg19", "id": "chr8:g.116616809T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.115604582T>A?assembly=hg38", "id": "chr8:g.115604582T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2130493086", "rs": 2130493086 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 115604582, "referenceAllele": "T", "start": 115604581 } ], "hgvs": [ "NC_000008.11:g.115604582T>A", "CM000670.2:g.115604582T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116616809, "referenceAllele": "T", "start": 116616808 } ], "hgvs": [ "NC_000008.10:g.116616809T>A", "CM000670.1:g.116616809T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116685984, "referenceAllele": "T", "start": 116685983 } ], "hgvs": [ "NC_000008.9:g.116685984T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 69420, "referenceAllele": "A", "start": 69419 } ], "hgvs": [ "NG_012383.3:g.69420A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002387" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "A", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.8:c.1387A>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Lys463Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.1387A>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.1387A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Lys463Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Lys463Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "A", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000640765.1:c.1348A>T" ], "proteinEffect": { "hgvs": "ENSP00000492037.1:p.Lys450Ter", "hgvsWellDefined": "ENSP00000492037.1:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765663" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "A", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000220888.9:c.1348A>T" ], "proteinEffect": { "hgvs": "ENSP00000220888.5:p.Lys450Ter", "hgvsWellDefined": "ENSP00000220888.5:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248249" }, { "coordinates": [ { "allele": "T", "end": 1965, "referenceAllele": "A", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.7:c.1387A>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Lys463Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276851" }, { "coordinates": [ { "allele": "T", "end": 1389, "endIntronDirection": "+", "endIntronOffset": 69, "referenceAllele": "A", "start": 1389, "startIntronDirection": "+", "startIntronOffset": 68 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000517323.2:c.1291+69A>T" ], "proteinEffect": { "hgvs": "ENSP00000430803.2:n.1291+69A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS345031" }, { "coordinates": [ { "allele": "T", "end": 1153, "endIntronDirection": "+", "endIntronOffset": 69, "referenceAllele": "A", "start": 1153, "startIntronDirection": "+", "startIntronOffset": 68 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519076.5:c.1141+69A>T" ], "proteinEffect": { "hgvs": "ENSP00000428910.1:n.1141+69A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346388" }, { "coordinates": [ { "allele": "T", "end": 1709, "referenceAllele": "A", "start": 1708 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519674.1:c.1348A>T" ], "proteinEffect": { "hgvs": "ENSP00000429174.1:p.Lys450Ter", "hgvsWellDefined": "ENSP00000429174.1:p.Lys450_Leu902delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346880" }, { "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "A", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000520276.5:c.1360A>T" ], "proteinEffect": { "hgvs": "ENSP00000428680.1:p.Lys454Ter", "hgvsWellDefined": "ENSP00000428680.1:p.Lys454_Glu1285delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347350" }, { "@id": "http://reg.genome.network/allele/PA2826672886", "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "A", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.2:c.1360A>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Lys454Ter", "hgvsWellDefined": "NP_001269831.1:p.Lys454_Glu1285delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022321" }, { "@id": "http://reg.genome.network/allele/PA2826673324", "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "A", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.2:c.1366A>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Lys456Ter", "hgvsWellDefined": "NP_001269832.1:p.Lys456_Glu1287delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022322" }, { "@id": "http://reg.genome.network/allele/PA2573257979", "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "A", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.4:c.1387A>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Lys463Ter", "hgvsWellDefined": "NP_054831.2:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032930" }, { "coordinates": [ { "allele": "T", "end": 1807, "referenceAllele": "A", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_005251049.2:c.1348A>T" ], "proteinEffect": { "hgvs": "XP_005251106.1:p.Lys450Ter", "hgvsWellDefined": "XP_005251106.1:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059401" }, { "coordinates": [ { "allele": "T", "end": 1929, "referenceAllele": "A", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_006716625.1:c.1387A>T" ], "proteinEffect": { "hgvs": "XP_006716688.1:p.Lys463Ter", "hgvsWellDefined": "XP_006716688.1:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071772" }, { "coordinates": [ { "allele": "T", "end": 2062, "referenceAllele": "A", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.1:c.1387A>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Lys463Ter", "hgvsWellDefined": "XP_011515566.1:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084463" }, { "coordinates": [ { "allele": "T", "end": 2201, "referenceAllele": "A", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517265.1:c.1387A>T" ], "proteinEffect": { "hgvs": "XP_011515567.1:p.Lys463Ter", "hgvsWellDefined": "XP_011515567.1:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084464" }, { "coordinates": [ { "allele": "T", "end": 1744, "referenceAllele": "A", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.1:c.1387A>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Lys463Ter", "hgvsWellDefined": "XP_011515568.1:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084465" }, { "coordinates": [ { "allele": "T", "end": 1915, "referenceAllele": "A", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517267.1:c.1366A>T" ], "proteinEffect": { "hgvs": "XP_011515569.1:p.Lys456Ter", "hgvsWellDefined": "XP_011515569.1:p.Lys456_Glu1287delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084466" }, { "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "A", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.1:c.1348A>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Lys450Ter", "hgvsWellDefined": "XP_011515570.1:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084467" }, { "@id": "http://reg.genome.network/allele/PA2827334632", "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "A", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.1:c.1348A>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Lys450Ter", "hgvsWellDefined": "NP_001317528.1:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516944" }, { "coordinates": [ { "allele": "T", "end": 2133, "referenceAllele": "A", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.2:c.1387A>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Lys463Ter", "hgvsWellDefined": "XP_011515566.1:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544481" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "A", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.3:c.1387A>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Lys463Ter", "hgvsWellDefined": "XP_011515568.1:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544482" }, { "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "A", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.2:c.1348A>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Lys450Ter", "hgvsWellDefined": "XP_011515570.1:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544483" }, { "@id": "http://reg.genome.network/allele/PA2826672886", "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "A", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.1360A>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Lys454Ter", "hgvsWellDefined": "NP_001269831.1:p.Lys454_Glu1285delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673324", "coordinates": [ { "allele": "T", "end": 1925, "referenceAllele": "A", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.3:c.1366A>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Lys456Ter", "hgvsWellDefined": "NP_001269832.1:p.Lys456_Glu1287delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681937" }, { "@id": "http://reg.genome.network/allele/PA2827334632", "coordinates": [ { "allele": "T", "end": 1781, "referenceAllele": "A", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.2:c.1348A>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Lys450Ter", "hgvsWellDefined": "NP_001317528.1:p.Lys450_Glu1281delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687024" }, { "@id": "http://reg.genome.network/allele/PA2573257979", "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "A", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.5:c.1387A>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Lys463Ter", "hgvsWellDefined": "NP_054831.2:p.Lys463_Glu1294delinsLeuLeuGluHisTyrGlyLysGlnHisGlyAlaValGlnSerGlyGlyLeuAsnProGluLeuAsnAspLysLeuSerArgGlySerValIleAsnGlnAsnAspLeuAlaLysSerSerGluGlyGluThrMetThrLysThrAspLysSerSerSerGlyAlaLysLysLysAspPheSerSerLysGlyAlaGluAspAsnMetValThrSerTyrAsnCysGlnPheCysAspPheArgTyrSerLysSerHisGlyProAspValIleValValGlyProLeuLeuArgHisTyrGlnGlnLeuHisAsnIleHisLysCysThrIleLysHisCysProPheCysProArgGlyLeuCysSerProGluLysHisLeuGlyGluIleThrTyrProPheAlaCysArgLysSerAsnCysSerHisCysAlaLeuLeuLeuLeuHisLeuSerProGlyAlaAlaGlySerSerArgValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697185", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.1387A>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.1387A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Lys463Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Lys463Ter" } } } } ], "type": "nucleotide" }