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"NP_003968.3:p.Arg81_His330delinsGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666271", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000279146.8:c.241C>T" }, "RefSeq": { "hgvs": "NM_003977.4:c.241C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Arg81Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Arg81Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826875884", "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.2:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Arg81Ter", "hgvsWellDefined": "NP_001289889.1:p.Arg81_Gly283delinsGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683502" }, { "@id": "http://reg.genome.network/allele/PA2826875236", "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302959.2:c.64C>T" ], "proteinEffect": { "hgvs": "NP_001289888.1:p.Arg22Ter", "hgvsWellDefined": "NP_001289888.1:p.Arg22_His271delinsGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717004" } ], "type": "nucleotide" }