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"XP_005245264.1:p.Trp167_Val490delinsValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057130" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XM_011509580.1:c.500G>A" ], "proteinEffect": { "hgvs": "XP_011507882.1:p.Trp167Ter", "hgvsWellDefined": "XP_011507882.1:p.Trp167_Val526delinsLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076847" }, { "coordinates": [ { "allele": "A", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XM_011509581.1:c.500G>A" ], "proteinEffect": { "hgvs": "XP_011507883.1:p.Trp167Ter", "hgvsWellDefined": "XP_011507883.1:p.Trp167_Val526delinsLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076848" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XR_921801.1:n.704G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118970" }, { "@id": "http://reg.genome.network/allele/PA2825170071", "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_000433.4:c.500G>A" ], "proteinEffect": { "hgvs": "NP_000424.2:p.Trp167Ter", "hgvsWellDefined": "NP_000424.2:p.Trp167_Val526delinsLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367535.8:c.500G>A" }, "RefSeq": { "hgvs": "NM_000433.4:c.500G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356505.4:p.Trp167Ter" }, "RefSeq": { "hgvs": "NP_000424.2:p.Trp167Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825648858", "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "G", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001127651.3:c.500G>A" ], "proteinEffect": { "hgvs": "NP_001121123.1:p.Trp167Ter", "hgvsWellDefined": "NP_001121123.1:p.Trp167_Val526delinsLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676922" }, { "coordinates": [ { "allele": "A", "end": 496, "endIntronDirection": "+", "endIntronOffset": 3111, "referenceAllele": "G", "start": 496, "startIntronDirection": "+", "startIntronOffset": 3110 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190789.2:c.366+3111G>A" ], "proteinEffect": { "hgvs": "NP_001177718.1:n.366+3111G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713677" }, { "coordinates": [ { "allele": "A", "end": 496, "endIntronDirection": "-", "endIntronOffset": 1195, "referenceAllele": "G", "start": 496, "startIntronDirection": "-", "startIntronOffset": 1196 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190794.2:c.367-1196G>A" ], "proteinEffect": { "hgvs": "NP_001177723.1:n.367-1196G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713678" } ], "type": "nucleotide" }