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}, "referenceSequence": "http://reg.genome.network/refseq/RS278131" }, { "coordinates": [ { "allele": "A", "end": 2867, "referenceAllele": "G", "start": 2866 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000615422.1:c.1937G>A" ], "proteinEffect": { "hgvs": "ENSP00000480113.1:p.Trp646Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS402611" }, { "coordinates": [ { "allele": "A", "end": 2157, "referenceAllele": "G", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000617601.4:c.1865G>A" ], "proteinEffect": { "hgvs": "ENSP00000478433.1:p.Trp622Ter", "hgvsWellDefined": "ENSP00000478433.1:p.Trp622_Thr1447delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403552" }, { "@id": "http://reg.genome.network/allele/PA2825809486", "coordinates": [ { "allele": "A", "end": 2220, "referenceAllele": "G", "start": 2219 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001136024.3:c.1946G>A" ], "proteinEffect": { "hgvs": "NP_001129496.1:p.Trp649Ter", "hgvsWellDefined": "NP_001129496.1:p.Trp649_Thr1474delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012570" }, { "@id": "http://reg.genome.network/allele/PA916018203", "coordinates": [ { "allele": "A", "end": 2815, "referenceAllele": "G", "start": 2814 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.1:c.2477G>A" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Trp826Ter", "hgvsWellDefined": "NP_001278796.1:p.Trp826_Thr1651delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024350" }, { "@id": "http://reg.genome.network/allele/PA2826812064", "coordinates": [ { "allele": "A", "end": 2157, "referenceAllele": "G", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.1:c.1883G>A" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Trp628Ter", "hgvsWellDefined": "NP_001278797.1:p.Trp628_Thr1453delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024351" }, { "@id": "http://reg.genome.network/allele/PA891861485", "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.3:c.2414G>A" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Trp805Ter", "hgvsWellDefined": "NP_938011.1:p.Trp805_Thr1630delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044499" }, { "coordinates": [ { "allele": "A", "end": 2373, "referenceAllele": "G", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "XM_011545528.1:c.1529G>A" ], "proteinEffect": { "hgvs": "XP_011543830.1:p.Trp510Ter", "hgvsWellDefined": "XP_011543830.1:p.Trp510_Thr1335delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112428" }, { "coordinates": [ { "allele": "A", "end": 2364, "referenceAllele": "G", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "XM_011545528.2:c.1529G>A" ], "proteinEffect": { "hgvs": "XP_011543830.1:p.Trp510Ter", "hgvsWellDefined": "XP_011543830.1:p.Trp510_Thr1335delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556127" }, { "@id": "http://reg.genome.network/allele/PA2825809486", "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001136024.4:c.1946G>A" ], "proteinEffect": { "hgvs": "NP_001129496.1:p.Trp649Ter", "hgvsWellDefined": "NP_001129496.1:p.Trp649_Thr1474delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677381" }, { "@id": "http://reg.genome.network/allele/PA916018203", "coordinates": [ { "allele": "A", "end": 3035, "referenceAllele": "G", "start": 3034 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.2:c.2477G>A" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Trp826Ter", "hgvsWellDefined": "NP_001278796.1:p.Trp826_Thr1651delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682887", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676302.1:c.2477G>A" }, "RefSeq": { "hgvs": "NM_001291867.2:c.2477G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502262.1:p.Trp826Ter" }, "RefSeq": { "hgvs": "NP_001278796.1:p.Trp826Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826812064", "coordinates": [ { "allele": "A", "end": 1950, "referenceAllele": "G", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.2:c.1883G>A" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Trp628Ter", "hgvsWellDefined": "NP_001278797.1:p.Trp628_Thr1453delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682888" }, { "@id": "http://reg.genome.network/allele/PA891861485", "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "G", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.4:c.2414G>A" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Trp805Ter", "hgvsWellDefined": "NP_938011.1:p.Trp805_Thr1630delinsGlnAspTyrLeuAspHisLysArgGlnGlyArgProSerIleSerPheArgLysProLysAlaLysProThrProProLysArgSerSerSerLeuArgLysSerAspGlyAsnAlaAspIleSerGluLysLysGluProLysIleSerSerGlyGlnHisLeuProHisSerSerArgGluMetLysLeuProLeuAspPheAlaAsnThrProSerArgMetGluAsnAlaAsnLeuProThrLysGlnGluProSerTrpIleAsnGlnSerGluGlnGlyIleLysGluProGlnLeuAspAlaSerAspIleProProPheLysAspGluValAlaGluSerThrHisTyrAlaAspLeuTrpLeuLeuAsnAspLeuLysThrAsnAspProTyrArgSerLeuSerAsnSerSerThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701298" } ], "type": "nucleotide" }