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"XP_024304529.1:p.Gln14_His330delinsLysArgValIleGlnGluGlyArgGlyGluLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582329" }, { "@id": "http://reg.genome.network/allele/PA117125", "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_003977.4:c.40C>T" ], "proteinEffect": { "hgvs": "NP_003968.3:p.Gln14Ter", "hgvsWellDefined": "NP_003968.3:p.Gln14_His330delinsLysArgValIleGlnGluGlyArgGlyGluLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666271", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000279146.8:c.40C>T" }, "RefSeq": { "hgvs": "NM_003977.4:c.40C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Gln14Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Gln14Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826875717", "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.2:c.40C>T" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Gln14Ter", "hgvsWellDefined": "NP_001289889.1:p.Gln14_Gly283delinsLysArgValIleGlnGluGlyArgGlyGluLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683502" } ], "type": "nucleotide" }