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"NP_001171485.1:p.Gln303_Leu559delinsAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "T", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.847C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Gln283Ter", "hgvsWellDefined": "XP_011511175.1:p.Gln283_Pro387delinsAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.847C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Gln283Ter", "hgvsWellDefined": "XP_011511175.1:p.Gln283_Pro387delinsAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA2825187729", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.847C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Gln283Ter", "hgvsWellDefined": "NP_000523.2:p.Gln283_Leu539delinsAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.847C>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.847C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Gln283Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Gln283Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580158937", "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.907C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Gln303Ter", "hgvsWellDefined": "NP_001171485.1:p.Gln303_Leu559delinsAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }