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"G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000383778.5:c.755G>A" ], "proteinEffect": { "hgvs": "ENSP00000373288.4:p.Trp252Ter", "hgvsWellDefined": 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{ "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.2:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Trp252Ter", "hgvsWellDefined": 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{ "allele": "A", "end": 1197, "referenceAllele": "G", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001323582.1:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001310511.1:p.Trp252Ter", "hgvsWellDefined": 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"start": 1037 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.2:c.755G>A" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Trp252Ter", "hgvsWellDefined": "XP_011532343.1:p.Trp252_Asp523delinsMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551484" }, { "coordinates": [ { "allele": "A", "end": 1314, "referenceAllele": "G", 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"start": 1147 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_024453724.1:c.755G>A" ], "proteinEffect": { "hgvs": "XP_024309492.1:p.Trp252Ter", "hgvsWellDefined": "XP_024309492.1:p.Trp252_Asp523delinsMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587099" }, { "@id": "http://reg.genome.network/allele/PA2826589871", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.3:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001268652.2:p.Trp252Ter", "hgvsWellDefined": "NP_001268652.2:p.Trp252_Asp523delinsMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681660" }, { "@id": "http://reg.genome.network/allele/PA2826590856", "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.3:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001268653.2:p.Trp252Ter", "hgvsWellDefined": "NP_001268653.2:p.Trp252_Asp523delinsMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681661" }, { "@id": "http://reg.genome.network/allele/PA2828445986", "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370658.1:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001357587.1:p.Trp252Ter", "hgvsWellDefined": "NP_001357587.1:p.Trp252_Asp523delinsMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692577", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.755G>A" }, "RefSeq": { "hgvs": "NM_001370658.1:c.755G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Trp252Ter" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Trp252Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916048669", "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370752.1:c.755G>A" ], "proteinEffect": { "hgvs": "NP_001357681.1:p.Trp252Ter", "hgvsWellDefined": "NP_001357681.1:p.Trp252_Lys364delinsMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisArgSerHisSerValAlaGlnThrGlyValGluTrpHisAspLeuSerSerProLysProLeuProProArgLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692598" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 2614, "referenceAllele": "G", "start": 565, "startIntronDirection": "+", "startIntronOffset": 2613 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370753.1:c.399+2614G>A" ], "proteinEffect": { "hgvs": "NP_001357682.1:n.399+2614G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692599" }, { "coordinates": [ { "allele": "A", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281726.2:c.*2533G>A" ], "proteinEffect": { "hgvs": "NP_001268655.2:n.*2533G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715719" } ], "type": "nucleotide" }