{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117608", "communityStandardTitle": [ "NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4736684", "active": true, "id": "COSM4736684" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4736685", "active": true, "id": "COSM4736685" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20612[alleleid]", "alleleId": 20612, "preferredName": "NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5573", "RCV": [ "RCV000005915", "RCV000760409" ], "variationId": 5573 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.116599371G>A?assembly=hg19", "id": "chr8:g.116599371G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.115587144G>A?assembly=hg38", "id": "chr8:g.115587144G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908432", "rs": 121908432 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 115587144, "referenceAllele": "G", "start": 115587143 } ], "hgvs": [ "NC_000008.11:g.115587144G>A", "CM000670.2:g.115587144G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116599371, "referenceAllele": "G", "start": 116599370 } ], "hgvs": [ "NC_000008.10:g.116599371G>A", "CM000670.1:g.116599371G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116668546, "referenceAllele": "G", "start": 116668545 } ], "hgvs": [ "NC_000008.9:g.116668546G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 86858, "referenceAllele": "C", "start": 86857 } ], "hgvs": [ "NG_012383.3:g.86858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002387" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3109, "referenceAllele": "C", "start": 3108 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.8:c.2557C>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Arg853Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.2557C>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.2557C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Arg853Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Arg853Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2659, "referenceAllele": "C", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000640765.1:c.2518C>T" ], "proteinEffect": { "hgvs": "ENSP00000492037.1:p.Arg840Ter", "hgvsWellDefined": "ENSP00000492037.1:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765663" }, { "coordinates": [ { "allele": "T", "end": 2678, "referenceAllele": "C", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000220888.9:c.2518C>T" ], "proteinEffect": { "hgvs": "ENSP00000220888.5:p.Arg840Ter", "hgvsWellDefined": "ENSP00000220888.5:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248249" }, { "coordinates": [ { "allele": "T", "end": 3135, "referenceAllele": "C", "start": 3134 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.7:c.2557C>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Arg853Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276851" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000517323.2:c.1930C>T" ], "proteinEffect": { "hgvs": "ENSP00000430803.2:p.Arg644Ter", "hgvsWellDefined": "ENSP00000430803.2:p.Arg644_Arg691del" }, "referenceSequence": "http://reg.genome.network/refseq/RS345031" }, { "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519076.5:c.1780C>T" ], "proteinEffect": { "hgvs": "ENSP00000428910.1:p.Arg594Ter", "hgvsWellDefined": "ENSP00000428910.1:p.Arg594_Glu1035delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346388" }, { "coordinates": [ { "allele": "T", "end": 2879, "referenceAllele": "C", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519674.1:c.2518C>T" ], "proteinEffect": { "hgvs": "ENSP00000429174.1:p.Arg840Ter", "hgvsWellDefined": "ENSP00000429174.1:p.Arg840_Leu902delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346880" }, { "coordinates": [ { "allele": "T", "end": 2654, "referenceAllele": "C", "start": 2653 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000520276.5:c.2530C>T" ], "proteinEffect": { "hgvs": "ENSP00000428680.1:p.Arg844Ter", "hgvsWellDefined": "ENSP00000428680.1:p.Arg844_Glu1285delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347350" }, { "@id": "http://reg.genome.network/allele/PA2826673025", "coordinates": [ { "allele": "T", "end": 2659, "referenceAllele": "C", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.2:c.2530C>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Arg844Ter", "hgvsWellDefined": "NP_001269831.1:p.Arg844_Glu1285delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022321" }, { "@id": "http://reg.genome.network/allele/PA2826673462", "coordinates": [ { "allele": "T", "end": 3148, "referenceAllele": "C", "start": 3147 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.2:c.2536C>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Arg846Ter", "hgvsWellDefined": "NP_001269832.1:p.Arg846_Glu1287delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022322" }, { "@id": "http://reg.genome.network/allele/PA117609", "coordinates": [ { "allele": "T", "end": 3162, "referenceAllele": "C", "start": 3161 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.4:c.2557C>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Arg853Ter", "hgvsWellDefined": "NP_054831.2:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032930" }, { "coordinates": [ { "allele": "T", "end": 2977, "referenceAllele": "C", "start": 2976 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_005251049.2:c.2518C>T" ], "proteinEffect": { "hgvs": "XP_005251106.1:p.Arg840Ter", "hgvsWellDefined": "XP_005251106.1:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059401" }, { "coordinates": [ { "allele": "T", "end": 3099, "referenceAllele": "C", "start": 3098 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_006716625.1:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_006716688.1:p.Arg853Ter", "hgvsWellDefined": "XP_006716688.1:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071772" }, { "coordinates": [ { "allele": "T", "end": 3232, "referenceAllele": "C", "start": 3231 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.1:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Arg853Ter", "hgvsWellDefined": "XP_011515566.1:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084463" }, { "coordinates": [ { "allele": "T", "end": 3371, "referenceAllele": "C", "start": 3370 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517265.1:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_011515567.1:p.Arg853Ter", "hgvsWellDefined": "XP_011515567.1:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084464" }, { "coordinates": [ { "allele": "T", "end": 2914, "referenceAllele": "C", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.1:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Arg853Ter", "hgvsWellDefined": "XP_011515568.1:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084465" }, { "coordinates": [ { "allele": "T", "end": 3085, "referenceAllele": "C", "start": 3084 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517267.1:c.2536C>T" ], "proteinEffect": { "hgvs": "XP_011515569.1:p.Arg846Ter", "hgvsWellDefined": "XP_011515569.1:p.Arg846_Glu1287delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084466" }, { "coordinates": [ { "allele": "T", "end": 3074, "referenceAllele": "C", "start": 3073 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.1:c.2518C>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Arg840Ter", "hgvsWellDefined": "XP_011515570.1:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084467" }, { "@id": "http://reg.genome.network/allele/PA2827334770", "coordinates": [ { "allele": "T", "end": 3004, "referenceAllele": "C", "start": 3003 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.1:c.2518C>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Arg840Ter", "hgvsWellDefined": "NP_001317528.1:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516944" }, { "coordinates": [ { "allele": "T", "end": 3303, "referenceAllele": "C", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.2:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Arg853Ter", "hgvsWellDefined": "XP_011515566.1:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544481" }, { "coordinates": [ { "allele": "T", "end": 2971, "referenceAllele": "C", "start": 2970 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.3:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Arg853Ter", "hgvsWellDefined": "XP_011515568.1:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544482" }, { "coordinates": [ { "allele": "T", "end": 3145, "referenceAllele": "C", "start": 3144 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.2:c.2518C>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Arg840Ter", "hgvsWellDefined": "XP_011515570.1:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544483" }, { "@id": "http://reg.genome.network/allele/PA2826673025", "coordinates": [ { "allele": "T", "end": 2660, "referenceAllele": "C", "start": 2659 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.2530C>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Arg844Ter", "hgvsWellDefined": "NP_001269831.1:p.Arg844_Glu1285delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673462", "coordinates": [ { "allele": "T", "end": 3095, "referenceAllele": "C", "start": 3094 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.3:c.2536C>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Arg846Ter", "hgvsWellDefined": "NP_001269832.1:p.Arg846_Glu1287delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681937" }, { "@id": "http://reg.genome.network/allele/PA2827334770", "coordinates": [ { "allele": "T", "end": 2951, "referenceAllele": "C", "start": 2950 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.2:c.2518C>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Arg840Ter", "hgvsWellDefined": "NP_001317528.1:p.Arg840_Glu1281delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687024" }, { "@id": "http://reg.genome.network/allele/PA117609", "coordinates": [ { "allele": "T", "end": 3109, "referenceAllele": "C", "start": 3108 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.5:c.2557C>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Arg853Ter", "hgvsWellDefined": "NP_054831.2:p.Arg853_Glu1294delinsProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697185", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.2557C>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.2557C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Arg853Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Arg853Ter" } } } } ], "type": "nucleotide" }