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"XP_005261181.1:p.Arg2929_Gln3347delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063041" }, { "coordinates": [ { "allele": "T", "end": 8992, "referenceAllele": "C", "start": 8991 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_011529593.1:c.8863C>T" ], "proteinEffect": { "hgvs": "XP_011527895.1:p.Arg2955Ter", "hgvsWellDefined": "XP_011527895.1:p.Arg2955_Gln3373delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096662" }, { "coordinates": [ { "allele": "T", "end": 8961, "referenceAllele": "C", "start": 8960 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_011529594.1:c.8833C>T" ], "proteinEffect": { "hgvs": "XP_011527896.1:p.Arg2945Ter", "hgvsWellDefined": "XP_011527896.1:p.Arg2945_Gln3363delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096663" }, { "coordinates": [ { "allele": "T", "end": 8892, "referenceAllele": "C", "start": 8891 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_005261124.5:c.8785C>T" ], "proteinEffect": { "hgvs": "XP_005261181.1:p.Arg2929Ter", "hgvsWellDefined": "XP_005261181.1:p.Arg2929_Gln3347delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535288" }, { "coordinates": [ { "allele": "T", "end": 8940, "referenceAllele": "C", "start": 8939 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_011529594.3:c.8833C>T" ], "proteinEffect": { "hgvs": "XP_011527896.1:p.Arg2945Ter", "hgvsWellDefined": "XP_011527896.1:p.Arg2945_Gln3363delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549570" }, { "coordinates": [ { "allele": "T", "end": 8622, "referenceAllele": "C", "start": 8621 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_017028362.2:c.8515C>T" ], "proteinEffect": { "hgvs": "XP_016883851.1:p.Arg2839Ter", "hgvsWellDefined": "XP_016883851.1:p.Arg2839_Gln3257delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578121" }, { "coordinates": [ { "allele": "T", "end": 9080, "referenceAllele": "C", "start": 9079 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_017028363.1:c.8431C>T" ], "proteinEffect": { "hgvs": "XP_016883852.1:p.Arg2811Ter", "hgvsWellDefined": "XP_016883852.1:p.Arg2811_Gln3229delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578122" }, { "coordinates": [ { "allele": "T", "end": 7973, "referenceAllele": "C", "start": 7972 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_024452082.1:c.7669C>T" ], "proteinEffect": { "hgvs": "XP_024307850.1:p.Arg2557Ter", "hgvsWellDefined": "XP_024307850.1:p.Arg2557_Gln2975delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585584" }, { "coordinates": [ { "allele": "T", "end": 8741, "referenceAllele": "C", "start": 8740 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "XM_024452083.1:c.6565C>T" ], "proteinEffect": { "hgvs": "XP_024307851.1:p.Arg2189Ter", "hgvsWellDefined": "XP_024307851.1:p.Arg2189_Gln2607delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585585" }, { "@id": "http://reg.genome.network/allele/PA250515", "coordinates": [ { "allele": "T", "end": 8825, "referenceAllele": "C", "start": 8824 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "NM_006031.6:c.8752C>T" ], "proteinEffect": { "hgvs": "NP_006022.3:p.Arg2918Ter", "hgvsWellDefined": "NP_006022.3:p.Arg2918_Gln3336delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667259", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359568.10:c.8752C>T" }, "RefSeq": { "hgvs": "NM_006031.6:c.8752C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352572.5:p.Arg2918Ter" }, "RefSeq": { "hgvs": "NP_006022.3:p.Arg2918Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826952700", "coordinates": [ { "allele": "T", "end": 9005, "referenceAllele": "C", "start": 9004 } ], "gene": "http://reg.genome.network/gene/GN016068", "geneNCBI_id": 5116, "geneSymbol": "PCNT", "hgvs": [ "NM_001315529.2:c.8161C>T" ], "proteinEffect": { "hgvs": "NP_001302458.1:p.Arg2721Ter", "hgvsWellDefined": "NP_001302458.1:p.Arg2721_Gln3139delinsGluLeuGluLeuGlnArgGlnArgAspLeuHisLysIleLysGlnLeuGlnGlnThrValArgAspLeuGluSerLysAspGluValProGlySerArgLeuHisLeuGlySerAlaArgArgAlaAlaGlySerAspAlaAspHisLeuArgGluGlnGlnArgGluLeuGluAlaMetArgGlnArgLeuLeuSerAlaAlaArgLeuLeuThrSerPheThrSerGlnAlaValAspArgThrValAsnAspTrpThrSerSerAsnGluLysAlaValMetSerLeuLeuHisThrLeuGluGluLeuLysSerAspLeuSerArgProThrSerSerGlnLysLysMetAlaAlaGluLeuGlnPheGlnPheValAspValLeuLeuLysAspAsnValSerLeuThrLysAlaLeuSerThrValThrGlnGluLysLeuGluLeuSerArgAlaValSerLysLeuGluLysLeuLeuLysHisHisLeuGlnLysGlyCysSerProSerArgSerGluArgSerAlaTrpLysProAspGluThrAlaProGlnSerSerLeuArgArgProAspProGlyArgLeuProProAlaAlaSerGluGluAlaHisThrSerAsnValLysMetGluLysLeuTyrLeuHisTyrLeuArgAlaGluSerPheArgLysAlaLeuIleTyrGlnLysLysTyrLeuLeuLeuLeuIleGlyGlyPheGlnAspSerGluGlnGluThrLeuSerMetIleAlaHisLeuGlyValPheProSerLysAlaGluArgLysIleThrSerArgProPheThrArgPheArgThrAlaValArgValValIleAlaIleLeuArgLeuArgPheLeuValLysLysTrpGlnGluValAspArgLysGlyAlaLeuAlaGlnGlyLysAlaProArgProGlyProArgAlaArgGlnProGlnSerProProArgThrArgGluSerProProThrArgAspValProSerGlyHisThrArgAspProAlaArgGlyArgArgLeuAlaAlaAlaAlaSerProHisSerGlyGlyArgAlaThrProSerProAsnSerArgLeuGluArgSerLeuThrAlaSerGlnAspProGluHisSerLeuThrGluTyrIleHisHisLeuGluValIleGlnGlnArgLeuGlyGlyValLeuProAspSerThrSerLysLysSerCysHisProMetIleLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684148" } ], "type": "nucleotide" }