{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA045135", "communityStandardTitle": [ "NM_002529.4(NTRK1):c.[25C>T;1810C>T;1838G>T] (p.Gln9Ter)" ], "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 156860959, "referenceAllele": "C", "start": 156860958 }, { "allele": "T", "end": 156879126, "referenceAllele": "C", "start": 156879125 }, { "allele": "T", "end": 156879154, "referenceAllele": "G", "start": 156879153 } ], "hgvs": [ "NC_000001.11:g.[156860959C>T;156879126C>T;156879154G>T]", "CM000663.2:g.[156860959C>T;156879126C>T;156879154G>T]" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 156830751, "referenceAllele": "C", "start": 156830750 }, { "allele": "T", "end": 156848918, "referenceAllele": "C", "start": 156848917 }, { "allele": "T", "end": 156848946, "referenceAllele": "G", 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"LRG_261:g.[50210C>T;68377C>T;68405G>T]" ], "referenceSequence": "http://reg.genome.network/refseq/RS000615" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 456, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 456, "startIntronDirection": "-", "startIntronOffset": 3395 }, { "allele": "T", "end": 2036, "referenceAllele": "C", "start": 2035 }, { "allele": "T", "end": 2064, "referenceAllele": "G", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000674537.2:c.[51-3395C>T;1630C>T;1658G>T]" ], "proteinEffect": { "hgvs": "ENSP00000502725.1:p.[His544Tyr;Gly553Val]", "hgvsWellDefined": "ENSP00000502725.1:p.[His544Tyr;Gly553Val]" }, "referenceSequence": "http://reg.genome.network/refseq/RS906550" }, { "coordinates": [ { "allele": "T", "end": 296, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 296, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS758849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000524377.7:c.[25C>T;1810C>T;1838G>T]" }, "RefSeq": { "hgvs": "NM_002529.4:c.[25C>T;1810C>T;1838G>T]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000431418.1:p.Gln9Ter" }, "RefSeq": { "hgvs": "NP_002520.2:p.Gln9Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 421, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 421, "startIntronDirection": "-", "startIntronOffset": 3395 }, { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 }, { "allele": "T", "end": 2029, "referenceAllele": "G", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000674537.1:c.[51-3395C>T;1630C>T;1658G>T]" ], "proteinEffect": { "hgvs": "ENSP00000502725.1:p.[His544Tyr;Gly553Val]", "hgvsWellDefined": "ENSP00000502725.1:p.[His544Tyr;Gly553Val]" }, "referenceSequence": "http://reg.genome.network/refseq/RS774489" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "C", "start": 65 }, { "allele": "T", "end": 1842, "referenceAllele": "C", "start": 1841 }, { "allele": "T", "end": 1870, "referenceAllele": "G", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000358660.3:c.[25C>T;1801C>T;1829G>T]" ], "proteinEffect": { "hgvs": "ENSP00000351486.3:p.Gln9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264533" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "C", "start": 144 }, { "allele": "T", "end": 1912, "referenceAllele": "C", "start": 1911 }, { "allele": "T", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000368196.7:c.[25C>T;1792C>T;1820G>T]" ], "proteinEffect": { "hgvs": "ENSP00000357179.3:p.Gln9Ter", "hgvsWellDefined": "ENSP00000357179.3:p.Gln9_Gly790delinsLeuGlyTrpHisSerTrpAlaAlaGlyProGlySerLeuLeuAlaTrpLeuIleLeuAlaSerAlaGlyAlaAlaProCysProAspAlaCysCysProHisGlySerSerGlyLeuArgCysThrArgAspGlyAlaLeuAspSerLeuHisHisLeuProGlyAlaGluAsnLeuThrGluLeuTyrIleGluAsnGlnGlnHisLeuGlnHisLeuGluLeuArgAspLeuArgGlyLeuGlyGluLeuArgAsnLeuThrIleValLysSerGlyLeuArgPheValAlaProAspAlaPheHisPheThrProArgLeuSerArgLeuAsnLeuSerPheAsnAlaLeuGluSerLeuSerTrpLysThrValGlnGlyLeuSerLeuGlnGluLeuValLeuSerGlyAsnProLeuHisCysSerCysAlaLeuArgTrpLeuGlnArgTrpGluGluGluGlyLeuGlyGlyValProGluGlnLysLeuGlnCysHisGlyGlnGlyProLeuAlaHisMetProAsnAlaSerCysGlyValProThrLeuLysValGlnValProAsnAlaSerValAspValGlyAspAspValLeuLeuArgCysGlnValGluGlyArgGlyLeuGluGlnAlaGlyTrpIleLeuThrGluLeuGluGlnSerAlaThrValMetLysSerGlyGlyLeuProSerLeuGlyLeuThrLeuAlaAsnValThrSerAspLeuAsnArgLysAsnValThrCysTrpAlaGluAsnAspValGlyArgAlaGluValSerValGlnValAsnValSerPheProAlaSerValGlnLeuHisThrAlaValGluMetHisHisTrpCysIleProPheSerValAspGlyGlnProAlaProSerLeuArgTrpLeuPheAsnGlySerValLeuAsnGluThrSerPheIlePheThrGluPheLeuGluProAlaAlaAsnGluThrValArgHisGlyCysLeuArgLeuAsnGlnProThrHisValAsnAsnGlyAsnTyrThrLeuLeuAlaAlaAsnProPheGlyGlnAlaSerAlaSerIleMetAlaAlaPheMetAspAsnProPheGluPheAsnProGluAspProIleProAspThrAsnSerThrSerGlyAspProValGluLysLysAspGluThrProPheGlyValSerValAlaValGlyLeuAlaValPheAlaCysLeuPheLeuSerThrLeuLeuLeuValLeuAsnLysCysGlyArgArgAsnLysPheGlyIleAsnArgProAlaValLeuAlaProGluAspGlyLeuAlaMetSerLeuHisPheMetThrLeuGlyGlySerSerLeuSerProThrGluGlyLysGlySerGlyLeuGlnGlyHisIleIleGluAsnProGlnTyrPheSerAspAlaCysValHisHisIleLysArgArgAspIleValLeuLysTrpGluLeuGlyGluGlyAlaPheGlyLysValPheLeuAlaGluCysHisAsnLeuLeuProGluGlnAspLysMetLeuValAlaValLysAlaLeuLysGluAlaSerGluSerAlaArgGlnAspPheGlnArgGluAlaGluLeuLeuThrMetLeuGlnHisGlnHisIleValArgPhePheGlyValCysThrGluGlyArgProLeuLeuMetValPheGluTyrMetArgHisGlyAspLeuAsnArgPheLeuArgSerHisGlyProAspAlaLysLeuLeuAlaGlyGlyGluAspValAlaProGlyProLeuGlyLeuGlyGlnLeuLeuAlaValAlaSerGlnValAlaAlaGlyMetValTyrLeuAlaGlyLeuHisPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGlnGlyLeuValValLysIleGlyAspPheGlyMetSerArgAspIleTyrSerThrAspTyrTyrArgValGlyGlyArgThrMetLeuProIleArgTrpMetProProGluSerIleLeuTyrArgLysPheThrThrGluSerAspValTrpSerPheGlyValValLeuTrpGluIlePheThrTyrGlyLysGlnProTrpTyrGlnLeuSerAsnThrGluAlaIleAspCysIleThrGlnGlyArgGluLeuGluArgProArgAlaCysProProGluValTyrAlaIleMetArgGlyCysTrpGlnArgGluProGlnGlnArgHisSerIleLysAspValHisAlaArgLeuGlnAlaLeuAlaGlnAlaProProValTyrLeuAspValLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266833" }, { "coordinates": [ { "allele": "T", "end": 296, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 296, "startIntronDirection": "-", "startIntronOffset": 3395 }, { "allele": "T", "end": 1876, "referenceAllele": "C", "start": 1875 }, { "allele": "T", "end": 1904, "referenceAllele": "G", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000392302.6:c.[123-3395C>T;1702C>T;1730G>T]" ], "proteinEffect": { "hgvs": "ENSP00000376120.2:p.[His568Tyr;Gly577Val]", "hgvsWellDefined": "ENSP00000376120.2:p.[His568Tyr;Gly577Val]" }, "referenceSequence": "http://reg.genome.network/refseq/RS275020" }, { "coordinates": [ { "allele": "T", "end": 273, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 273, "startIntronDirection": "-", "startIntronOffset": 3395 }, { "allele": "T", "end": 1720, "referenceAllele": "C", "start": 1719 }, { "allele": "T", "end": 1748, "referenceAllele": "G", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000497019.6:c.[123-3395C>T;*402C>T;*430G>T]" ], "proteinEffect": { "hgvs": "ENSP00000436804.1:n.[123-3395C>T;*402C>T;*430G>T]" }, "referenceSequence": "http://reg.genome.network/refseq/RS333351" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "C", "start": 65 }, { "allele": "T", "end": 1851, "referenceAllele": "C", "start": 1850 }, { "allele": "T", "end": 1879, "referenceAllele": "G", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000524377.5:c.[25C>T;1810C>T;1838G>T]" ], "proteinEffect": { "hgvs": "ENSP00000431418.1:p.Gln9Ter", "hgvsWellDefined": "ENSP00000431418.1:p.Gln9_Gly796delinsLeuGlyTrpHisSerTrpAlaAlaGlyProGlySerLeuLeuAlaTrpLeuIleLeuAlaSerAlaGlyAlaAlaProCysProAspAlaCysCysProHisGlySerSerGlyLeuArgCysThrArgAspGlyAlaLeuAspSerLeuHisHisLeuProGlyAlaGluAsnLeuThrGluLeuTyrIleGluAsnGlnGlnHisLeuGlnHisLeuGluLeuArgAspLeuArgGlyLeuGlyGluLeuArgAsnLeuThrIleValLysSerGlyLeuArgPheValAlaProAspAlaPheHisPheThrProArgLeuSerArgLeuAsnLeuSerPheAsnAlaLeuGluSerLeuSerTrpLysThrValGlnGlyLeuSerLeuGlnGluLeuValLeuSerGlyAsnProLeuHisCysSerCysAlaLeuArgTrpLeuGlnArgTrpGluGluGluGlyLeuGlyGlyValProGluGlnLysLeuGlnCysHisGlyGlnGlyProLeuAlaHisMetProAsnAlaSerCysGlyValProThrLeuLysValGlnValProAsnAlaSerValAspValGlyAspAspValLeuLeuArgCysGlnValGluGlyArgGlyLeuGluGlnAlaGlyTrpIleLeuThrGluLeuGluGlnSerAlaThrValMetLysSerGlyGlyLeuProSerLeuGlyLeuThrLeuAlaAsnValThrSerAspLeuAsnArgLysAsnValThrCysTrpAlaGluAsnAspValGlyArgAlaGluValSerValGlnValAsnValSerPheProAlaSerValGlnLeuHisThrAlaValGluMetHisHisTrpCysIleProPheSerValAspGlyGlnProAlaProSerLeuArgTrpLeuPheAsnGlySerValLeuAsnGluThrSerPheIlePheThrGluPheLeuGluProAlaAlaAsnGluThrValArgHisGlyCysLeuArgLeuAsnGlnProThrHisValAsnAsnGlyAsnTyrThrLeuLeuAlaAlaAsnProPheGlyGlnAlaSerAlaSerIleMetAlaAlaPheMetAspAsnProPheGluPheAsnProGluAspProIleProValSerPheSerProValAspThrAsnSerThrSerGlyAspProValGluLysLysAspGluThrProPheGlyValSerValAlaValGlyLeuAlaValPheAlaCysLeuPheLeuSerThrLeuLeuLeuValLeuAsnLysCysGlyArgArgAsnLysPheGlyIleAsnArgProAlaValLeuAlaProGluAspGlyLeuAlaMetSerLeuHisPheMetThrLeuGlyGlySerSerLeuSerProThrGluGlyLysGlySerGlyLeuGlnGlyHisIleIleGluAsnProGlnTyrPheSerAspAlaCysValHisHisIleLysArgArgAspIleValLeuLysTrpGluLeuGlyGluGlyAlaPheGlyLysValPheLeuAlaGluCysHisAsnLeuLeuProGluGlnAspLysMetLeuValAlaValLysAlaLeuLysGluAlaSerGluSerAlaArgGlnAspPheGlnArgGluAlaGluLeuLeuThrMetLeuGlnHisGlnHisIleValArgPhePheGlyValCysThrGluGlyArgProLeuLeuMetValPheGluTyrMetArgHisGlyAspLeuAsnArgPheLeuArgSerHisGlyProAspAlaLysLeuLeuAlaGlyGlyGluAspValAlaProGlyProLeuGlyLeuGlyGlnLeuLeuAlaValAlaSerGlnValAlaAlaGlyMetValTyrLeuAlaGlyLeuHisPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGlnGlyLeuValValLysIleGlyAspPheGlyMetSerArgAspIleTyrSerThrAspTyrTyrArgValGlyGlyArgThrMetLeuProIleArgTrpMetProProGluSerIleLeuTyrArgLysPheThrThrGluSerAspValTrpSerPheGlyValValLeuTrpGluIlePheThrTyrGlyLysGlnProTrpTyrGlnLeuSerAsnThrGluAlaIleAspCysIleThrGlnGlyArgGluLeuGluArgProArgAlaCysProProGluValTyrAlaIleMetArgGlyCysTrpGlnArgGluProGlnGlnArgHisSerIleLysAspValHisAlaArgLeuGlnAlaLeuAlaGlnAlaProProValTyrLeuAspValLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS350549" }, { "coordinates": [ { "allele": "T", "end": 270, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 270, "startIntronDirection": "-", "startIntronOffset": 3395 }, { "allele": "T", "end": 2263, "referenceAllele": "C", "start": 2262 }, { "allele": "T", "end": 2291, "referenceAllele": "G", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "ENST00000530298.5:n.[271-3395C>T;2263C>T;2291G>T]" ], "referenceSequence": "http://reg.genome.network/refseq/RS355576" }, { "coordinates": [ { "allele": "T", "end": 202, "endIntronDirection": "-", "endIntronOffset": 3394, "referenceAllele": "C", "start": 202, "startIntronDirection": "-", "startIntronOffset": 3395 }, { "allele": "T", "end": 1782, "referenceAllele": "C", "start": 1781 }, { "allele": "T", "end": 1810, "referenceAllele": "G", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "NM_001007792.1:c.[123-3395C>T;1702C>T;1730G>T]", "LRG_261t1:c.[123-3395C>T;1702C>T;1730G>T]" ], "proteinEffect": { "hgvs": "NP_001007793.1:p.[His568Tyr;Gly577Val]", "hgvsWellDefined": "NP_001007793.1:p.[His568Tyr;Gly577Val]" }, "referenceSequence": "http://reg.genome.network/refseq/RS007958" }, { "@id": "http://reg.genome.network/allele/PA342991", "coordinates": [ { "allele": "T", "end": 81, "referenceAllele": "C", "start": 80 }, { "allele": "T", "end": 1848, "referenceAllele": "C", "start": 1847 }, { "allele": "T", "end": 1876, "referenceAllele": "G", "start": 1875 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "NM_001012331.1:c.[25C>T;1792C>T;1820G>T]", "LRG_261t2:c.[25C>T;1792C>T;1820G>T]" ], "proteinEffect": { "hgvs": "NP_001012331.1:p.Gln9Ter", "hgvsWellDefined": "NP_001012331.1:p.Gln9_Gly790delinsLeuGlyTrpHisSerTrpAlaAlaGlyProGlySerLeuLeuAlaTrpLeuIleLeuAlaSerAlaGlyAlaAlaProCysProAspAlaCysCysProHisGlySerSerGlyLeuArgCysThrArgAspGlyAlaLeuAspSerLeuHisHisLeuProGlyAlaGluAsnLeuThrGluLeuTyrIleGluAsnGlnGlnHisLeuGlnHisLeuGluLeuArgAspLeuArgGlyLeuGlyGluLeuArgAsnLeuThrIleValLysSerGlyLeuArgPheValAlaProAspAlaPheHisPheThrProArgLeuSerArgLeuAsnLeuSerPheAsnAlaLeuGluSerLeuSerTrpLysThrValGlnGlyLeuSerLeuGlnGluLeuValLeuSerGlyAsnProLeuHisCysSerCysAlaLeuArgTrpLeuGlnArgTrpGluGluGluGlyLeuGlyGlyValProGluGlnLysLeuGlnCysHisGlyGlnGlyProLeuAlaHisMetProAsnAlaSerCysGlyValProThrLeuLysValGlnValProAsnAlaSerValAspValGlyAspAspValLeuLeuArgCysGlnValGluGlyArgGlyLeuGluGlnAlaGlyTrpIleLeuThrGluLeuGluGlnSerAlaThrValMetLysSerGlyGlyLeuProSerLeuGlyLeuThrLeuAlaAsnValThrSerAspLeuAsnArgLysAsnValThrCysTrpAlaGluAsnAspValGlyArgAlaGluValSerValGlnValAsnValSerPheProAlaSerValGlnLeuHisThrAlaValGluMetHisHisTrpCysIleProPheSerValAspGlyGlnProAlaProSerLeuArgTrpLeuPheAsnGlySerValLeuAsnGluThrSerPheIlePheThrGluPheLeuGluProAlaAlaAsnGluThrValArgHisGlyCysLeuArgLeuAsnGlnProThrHisValAsnAsnGlyAsnTyrThrLeuLeuAlaAlaAsnProPheGlyGlnAlaSerAlaSerIleMetAlaAlaPheMetAspAsnProPheGluPheAsnProGluAspProIleProAspThrAsnSerThrSerGlyAspProValGluLysLysAspGluThrProPheGlyValSerValAlaValGlyLeuAlaValPheAlaCysLeuPheLeuSerThrLeuLeuLeuValLeuAsnLysCysGlyArgArgAsnLysPheGlyIleAsnArgProAlaValLeuAlaProGluAspGlyLeuAlaMetSerLeuHisPheMetThrLeuGlyGlySerSerLeuSerProThrGluGlyLysGlySerGlyLeuGlnGlyHisIleIleGluAsnProGlnTyrPheSerAspAlaCysValHisHisIleLysArgArgAspIleValLeuLysTrpGluLeuGlyGluGlyAlaPheGlyLysValPheLeuAlaGluCysHisAsnLeuLeuProGluGlnAspLysMetLeuValAlaValLysAlaLeuLysGluAlaSerGluSerAlaArgGlnAspPheGlnArgGluAlaGluLeuLeuThrMetLeuGlnHisGlnHisIleValArgPhePheGlyValCysThrGluGlyArgProLeuLeuMetValPheGluTyrMetArgHisGlyAspLeuAsnArgPheLeuArgSerHisGlyProAspAlaLysLeuLeuAlaGlyGlyGluAspValAlaProGlyProLeuGlyLeuGlyGlnLeuLeuAlaValAlaSerGlnValAlaAlaGlyMetValTyrLeuAlaGlyLeuHisPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGlnGlyLeuValValLysIleGlyAspPheGlyMetSerArgAspIleTyrSerThrAspTyrTyrArgValGlyGlyArgThrMetLeuProIleArgTrpMetProProGluSerIleLeuTyrArgLysPheThrThrGluSerAspValTrpSerPheGlyValValLeuTrpGluIlePheThrTyrGlyLysGlnProTrpTyrGlnLeuSerAsnThrGluAlaIleAspCysIleThrGlnGlyArgGluLeuGluArgProArgAlaCysProProGluValTyrAlaIleMetArgGlyCysTrpGlnArgGluProGlnGlnArgHisSerIleLysAspValHisAlaArgLeuGlnAlaLeuAlaGlnAlaProProValTyrLeuAspValLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008284" }, { "@id": "http://reg.genome.network/allele/PA342992", "coordinates": [ { "allele": "T", "end": 81, "referenceAllele": "C", "start": 80 }, { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 }, { "allele": "T", "end": 1894, "referenceAllele": "G", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "NM_002529.3:c.[25C>T;1810C>T;1838G>T]", "LRG_261t3:c.[25C>T;1810C>T;1838G>T]" ], "proteinEffect": { "hgvs": "NP_002520.2:p.Gln9Ter", "hgvsWellDefined": "NP_002520.2:p.Gln9_Gly796delinsLeuGlyTrpHisSerTrpAlaAlaGlyProGlySerLeuLeuAlaTrpLeuIleLeuAlaSerAlaGlyAlaAlaProCysProAspAlaCysCysProHisGlySerSerGlyLeuArgCysThrArgAspGlyAlaLeuAspSerLeuHisHisLeuProGlyAlaGluAsnLeuThrGluLeuTyrIleGluAsnGlnGlnHisLeuGlnHisLeuGluLeuArgAspLeuArgGlyLeuGlyGluLeuArgAsnLeuThrIleValLysSerGlyLeuArgPheValAlaProAspAlaPheHisPheThrProArgLeuSerArgLeuAsnLeuSerPheAsnAlaLeuGluSerLeuSerTrpLysThrValGlnGlyLeuSerLeuGlnGluLeuValLeuSerGlyAsnProLeuHisCysSerCysAlaLeuArgTrpLeuGlnArgTrpGluGluGluGlyLeuGlyGlyValProGluGlnLysLeuGlnCysHisGlyGlnGlyProLeuAlaHisMetProAsnAlaSerCysGlyValProThrLeuLysValGlnValProAsnAlaSerValAspValGlyAspAspValLeuLeuArgCysGlnValGluGlyArgGlyLeuGluGlnAlaGlyTrpIleLeuThrGluLeuGluGlnSerAlaThrValMetLysSerGlyGlyLeuProSerLeuGlyLeuThrLeuAlaAsnValThrSerAspLeuAsnArgLysAsnValThrCysTrpAlaGluAsnAspValGlyArgAlaGluValSerValGlnValAsnValSerPheProAlaSerValGlnLeuHisThrAlaValGluMetHisHisTrpCysIleProPheSerValAspGlyGlnProAlaProSerLeuArgTrpLeuPheAsnGlySerValLeuAsnGluThrSerPheIlePheThrGluPheLeuGluProAlaAlaAsnGluThrValArgHisGlyCysLeuArgLeuAsnGlnProThrHisValAsnAsnGlyAsnTyrThrLeuLeuAlaAlaAsnProPheGlyGlnAlaSerAlaSerIleMetAlaAlaPheMetAspAsnProPheGluPheAsnProGluAspProIleProValSerPheSerProValAspThrAsnSerThrSerGlyAspProValGluLysLysAspGluThrProPheGlyValSerValAlaValGlyLeuAlaValPheAlaCysLeuPheLeuSerThrLeuLeuLeuValLeuAsnLysCysGlyArgArgAsnLysPheGlyIleAsnArgProAlaValLeuAlaProGluAspGlyLeuAlaMetSerLeuHisPheMetThrLeuGlyGlySerSerLeuSerProThrGluGlyLysGlySerGlyLeuGlnGlyHisIleIleGluAsnProGlnTyrPheSerAspAlaCysValHisHisIleLysArgArgAspIleValLeuLysTrpGluLeuGlyGluGlyAlaPheGlyLysValPheLeuAlaGluCysHisAsnLeuLeuProGluGlnAspLysMetLeuValAlaValLysAlaLeuLysGluAlaSerGluSerAlaArgGlnAspPheGlnArgGluAlaGluLeuLeuThrMetLeuGlnHisGlnHisIleValArgPhePheGlyValCysThrGluGlyArgProLeuLeuMetValPheGluTyrMetArgHisGlyAspLeuAsnArgPheLeuArgSerHisGlyProAspAlaLysLeuLeuAlaGlyGlyGluAspValAlaProGlyProLeuGlyLeuGlyGlnLeuLeuAlaValAlaSerGlnValAlaAlaGlyMetValTyrLeuAlaGlyLeuHisPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGlnGlyLeuValValLysIleGlyAspPheGlyMetSerArgAspIleTyrSerThrAspTyrTyrArgValGlyGlyArgThrMetLeuProIleArgTrpMetProProGluSerIleLeuTyrArgLysPheThrThrGluSerAspValTrpSerPheGlyValValLeuTrpGluIlePheThrTyrGlyLysGlnProTrpTyrGlnLeuSerAsnThrGluAlaIleAspCysIleThrGlnGlyArgGluLeuGluArgProArgAlaCysProProGluValTyrAlaIleMetArgGlyCysTrpGlnArgGluProGlnGlnArgHisSerIleLysAspValHisAlaArgLeuGlnAlaLeuAlaGlnAlaProProValTyrLeuAspValLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027831" }, { "@id": "http://reg.genome.network/allele/PA342991", "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "C", "start": 94 }, { "allele": "T", "end": 1862, "referenceAllele": "C", "start": 1861 }, { "allele": "T", "end": 1890, "referenceAllele": "G", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "NM_001012331.2:c.[25C>T;1792C>T;1820G>T]" ], "proteinEffect": { "hgvs": "NP_001012331.1:p.Gln9Ter", "hgvsWellDefined": "NP_001012331.1:p.Gln9_Gly790delinsLeuGlyTrpHisSerTrpAlaAlaGlyProGlySerLeuLeuAlaTrpLeuIleLeuAlaSerAlaGlyAlaAlaProCysProAspAlaCysCysProHisGlySerSerGlyLeuArgCysThrArgAspGlyAlaLeuAspSerLeuHisHisLeuProGlyAlaGluAsnLeuThrGluLeuTyrIleGluAsnGlnGlnHisLeuGlnHisLeuGluLeuArgAspLeuArgGlyLeuGlyGluLeuArgAsnLeuThrIleValLysSerGlyLeuArgPheValAlaProAspAlaPheHisPheThrProArgLeuSerArgLeuAsnLeuSerPheAsnAlaLeuGluSerLeuSerTrpLysThrValGlnGlyLeuSerLeuGlnGluLeuValLeuSerGlyAsnProLeuHisCysSerCysAlaLeuArgTrpLeuGlnArgTrpGluGluGluGlyLeuGlyGlyValProGluGlnLysLeuGlnCysHisGlyGlnGlyProLeuAlaHisMetProAsnAlaSerCysGlyValProThrLeuLysValGlnValProAsnAlaSerValAspValGlyAspAspValLeuLeuArgCysGlnValGluGlyArgGlyLeuGluGlnAlaGlyTrpIleLeuThrGluLeuGluGlnSerAlaThrValMetLysSerGlyGlyLeuProSerLeuGlyLeuThrLeuAlaAsnValThrSerAspLeuAsnArgLysAsnValThrCysTrpAlaGluAsnAspValGlyArgAlaGluValSerValGlnValAsnValSerPheProAlaSerValGlnLeuHisThrAlaValGluMetHisHisTrpCysIleProPheSerValAspGlyGlnProAlaProSerLeuArgTrpLeuPheAsnGlySerValLeuAsnGluThrSerPheIlePheThrGluPheLeuGluProAlaAlaAsnGluThrValArgHisGlyCysLeuArgLeuAsnGlnProThrHisValAsnAsnGlyAsnTyrThrLeuLeuAlaAlaAsnProPheGlyGlnAlaSerAlaSerIleMetAlaAlaPheMetAspAsnProPheGluPheAsnProGluAspProIleProAspThrAsnSerThrSerGlyAspProValGluLysLysAspGluThrProPheGlyValSerValAlaValGlyLeuAlaValPheAlaCysLeuPheLeuSerThrLeuLeuLeuValLeuAsnLysCysGlyArgArgAsnLysPheGlyIleAsnArgProAlaValLeuAlaProGluAspGlyLeuAlaMetSerLeuHisPheMetThrLeuGlyGlySerSerLeuSerProThrGluGlyLysGlySerGlyLeuGlnGlyHisIleIleGluAsnProGlnTyrPheSerAspAlaCysValHisHisIleLysArgArgAspIleValLeuLysTrpGluLeuGlyGluGlyAlaPheGlyLysValPheLeuAlaGluCysHisAsnLeuLeuProGluGlnAspLysMetLeuValAlaValLysAlaLeuLysGluAlaSerGluSerAlaArgGlnAspPheGlnArgGluAlaGluLeuLeuThrMetLeuGlnHisGlnHisIleValArgPhePheGlyValCysThrGluGlyArgProLeuLeuMetValPheGluTyrMetArgHisGlyAspLeuAsnArgPheLeuArgSerHisGlyProAspAlaLysLeuLeuAlaGlyGlyGluAspValAlaProGlyProLeuGlyLeuGlyGlnLeuLeuAlaValAlaSerGlnValAlaAlaGlyMetValTyrLeuAlaGlyLeuHisPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGlnGlyLeuValValLysIleGlyAspPheGlyMetSerArgAspIleTyrSerThrAspTyrTyrArgValGlyGlyArgThrMetLeuProIleArgTrpMetProProGluSerIleLeuTyrArgLysPheThrThrGluSerAspValTrpSerPheGlyValValLeuTrpGluIlePheThrTyrGlyLysGlnProTrpTyrGlnLeuSerAsnThrGluAlaIleAspCysIleThrGlnGlyArgGluLeuGluArgProArgAlaCysProProGluValTyrAlaIleMetArgGlyCysTrpGlnArgGluProGlnGlnArgHisSerIleLysAspValHisAlaArgLeuGlnAlaLeuAlaGlnAlaProProValTyrLeuAspValLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711311" }, { "@id": "http://reg.genome.network/allele/PA342992", "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "C", "start": 94 }, { "allele": "T", "end": 1880, "referenceAllele": "C", "start": 1879 }, { "allele": "T", "end": 1908, "referenceAllele": "G", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN008031", "geneNCBI_id": 4914, "geneSymbol": "NTRK1", "hgvs": [ "NM_002529.4:c.[25C>T;1810C>T;1838G>T]" ], "proteinEffect": { "hgvs": "NP_002520.2:p.Gln9Ter", "hgvsWellDefined": "NP_002520.2:p.Gln9_Gly796delinsLeuGlyTrpHisSerTrpAlaAlaGlyProGlySerLeuLeuAlaTrpLeuIleLeuAlaSerAlaGlyAlaAlaProCysProAspAlaCysCysProHisGlySerSerGlyLeuArgCysThrArgAspGlyAlaLeuAspSerLeuHisHisLeuProGlyAlaGluAsnLeuThrGluLeuTyrIleGluAsnGlnGlnHisLeuGlnHisLeuGluLeuArgAspLeuArgGlyLeuGlyGluLeuArgAsnLeuThrIleValLysSerGlyLeuArgPheValAlaProAspAlaPheHisPheThrProArgLeuSerArgLeuAsnLeuSerPheAsnAlaLeuGluSerLeuSerTrpLysThrValGlnGlyLeuSerLeuGlnGluLeuValLeuSerGlyAsnProLeuHisCysSerCysAlaLeuArgTrpLeuGlnArgTrpGluGluGluGlyLeuGlyGlyValProGluGlnLysLeuGlnCysHisGlyGlnGlyProLeuAlaHisMetProAsnAlaSerCysGlyValProThrLeuLysValGlnValProAsnAlaSerValAspValGlyAspAspValLeuLeuArgCysGlnValGluGlyArgGlyLeuGluGlnAlaGlyTrpIleLeuThrGluLeuGluGlnSerAlaThrValMetLysSerGlyGlyLeuProSerLeuGlyLeuThrLeuAlaAsnValThrSerAspLeuAsnArgLysAsnValThrCysTrpAlaGluAsnAspValGlyArgAlaGluValSerValGlnValAsnValSerPheProAlaSerValGlnLeuHisThrAlaValGluMetHisHisTrpCysIleProPheSerValAspGlyGlnProAlaProSerLeuArgTrpLeuPheAsnGlySerValLeuAsnGluThrSerPheIlePheThrGluPheLeuGluProAlaAlaAsnGluThrValArgHisGlyCysLeuArgLeuAsnGlnProThrHisValAsnAsnGlyAsnTyrThrLeuLeuAlaAlaAsnProPheGlyGlnAlaSerAlaSerIleMetAlaAlaPheMetAspAsnProPheGluPheAsnProGluAspProIleProValSerPheSerProValAspThrAsnSerThrSerGlyAspProValGluLysLysAspGluThrProPheGlyValSerValAlaValGlyLeuAlaValPheAlaCysLeuPheLeuSerThrLeuLeuLeuValLeuAsnLysCysGlyArgArgAsnLysPheGlyIleAsnArgProAlaValLeuAlaProGluAspGlyLeuAlaMetSerLeuHisPheMetThrLeuGlyGlySerSerLeuSerProThrGluGlyLysGlySerGlyLeuGlnGlyHisIleIleGluAsnProGlnTyrPheSerAspAlaCysValHisHisIleLysArgArgAspIleValLeuLysTrpGluLeuGlyGluGlyAlaPheGlyLysValPheLeuAlaGluCysHisAsnLeuLeuProGluGlnAspLysMetLeuValAlaValLysAlaLeuLysGluAlaSerGluSerAlaArgGlnAspPheGlnArgGluAlaGluLeuLeuThrMetLeuGlnHisGlnHisIleValArgPhePheGlyValCysThrGluGlyArgProLeuLeuMetValPheGluTyrMetArgHisGlyAspLeuAsnArgPheLeuArgSerHisGlyProAspAlaLysLeuLeuAlaGlyGlyGluAspValAlaProGlyProLeuGlyLeuGlyGlnLeuLeuAlaValAlaSerGlnValAlaAlaGlyMetValTyrLeuAlaGlyLeuHisPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGlnGlyLeuValValLysIleGlyAspPheGlyMetSerArgAspIleTyrSerThrAspTyrTyrArgValGlyGlyArgThrMetLeuProIleArgTrpMetProProGluSerIleLeuTyrArgLysPheThrThrGluSerAspValTrpSerPheGlyValValLeuTrpGluIlePheThrTyrGlyLysGlnProTrpTyrGlnLeuSerAsnThrGluAlaIleAspCysIleThrGlnGlyArgGluLeuGluArgProArgAlaCysProProGluValTyrAlaIleMetArgGlyCysTrpGlnArgGluProGlnGlnArgHisSerIleLysAspValHisAlaArgLeuGlnAlaLeuAlaGlnAlaProProValTyrLeuAspValLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727288", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000524377.7:c.[25C>T;1810C>T;1838G>T]" }, "RefSeq": { "hgvs": "NM_002529.4:c.[25C>T;1810C>T;1838G>T]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000431418.1:p.Gln9Ter" }, "RefSeq": { "hgvs": "NP_002520.2:p.Gln9Ter" } } } } ], "type": "nucleotide" }