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], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248196.3:c.1699C>T" ], "proteinEffect": { "hgvs": "XP_005248253.1:p.Gln567Ter", "hgvsWellDefined": 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"allele": "T", "end": 2311, "referenceAllele": "C", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513891.1:c.1726C>T" ], "proteinEffect": { "hgvs": "XP_011512193.1:p.Gln576Ter", "hgvsWellDefined": 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], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513901.1:c.1726C>T" ], "proteinEffect": { "hgvs": "XP_011512203.1:p.Gln576Ter", "hgvsWellDefined": 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], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513902.2:c.1726C>T" ], "proteinEffect": { "hgvs": "XP_011512204.1:p.Gln576Ter", "hgvsWellDefined": 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"NP_001139322.1:p.Gln576_His834delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677949" }, { "@id": "http://reg.genome.network/allele/PA2825917885", "coordinates": [ { "allele": "T", "end": 1911, "referenceAllele": "C", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145851.2:c.1699C>T" ], "proteinEffect": { "hgvs": "NP_001139323.1:p.Gln567Ter", "hgvsWellDefined": "NP_001139323.1:p.Gln567_His833delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677950" }, { "@id": "http://reg.genome.network/allele/PA2825918953", "coordinates": [ { "allele": "T", "end": 1976, "referenceAllele": "C", "start": 1975 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145852.2:c.1699C>T" ], "proteinEffect": { "hgvs": "NP_001139324.1:p.Gln567Ter", "hgvsWellDefined": "NP_001139324.1:p.Gln567_His825delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677951" }, { "@id": "http://reg.genome.network/allele/PA2828484774", "coordinates": [ { "allele": "T", "end": 1948, "referenceAllele": "C", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371406.1:c.1699C>T" ], "proteinEffect": { "hgvs": "NP_001358335.1:p.Gln567Ter", "hgvsWellDefined": "NP_001358335.1:p.Gln567_His856delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692886" }, { "@id": "http://reg.genome.network/allele/PA2828485394", "coordinates": [ { "allele": "T", "end": 2016, "referenceAllele": "C", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371407.1:c.1699C>T" ], "proteinEffect": { "hgvs": "NP_001358336.1:p.Gln567Ter", "hgvsWellDefined": "NP_001358336.1:p.Gln567_His825delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692887" }, { "@id": "http://reg.genome.network/allele/PA2828485987", "coordinates": [ { "allele": "T", "end": 1948, "referenceAllele": "C", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371408.1:c.1699C>T" ], "proteinEffect": { "hgvs": "NP_001358337.1:p.Gln567Ter", "hgvsWellDefined": "NP_001358337.1:p.Gln567_His825delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692888" }, { "@id": "http://reg.genome.network/allele/PA253537", "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_006017.3:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_006008.1:p.Gln576Ter", "hgvsWellDefined": "NP_006008.1:p.Gln576_His865delinsAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696586", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447510.7:c.1726C>T" }, "RefSeq": { "hgvs": "NM_006017.3:c.1726C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415481.2:p.Gln576Ter" }, "RefSeq": { "hgvs": "NP_006008.1:p.Gln576Ter" } } } } ], "type": "nucleotide" }