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"NP_001129496.1:p.Lys1209_Thr1474delinsSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677381" }, { "@id": "http://reg.genome.network/allele/PA916018222", "coordinates": [ { "allele": "T", "end": 4714, "referenceAllele": "A", "start": 4713 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.2:c.4156A>T" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Lys1386Ter", "hgvsWellDefined": "NP_001278796.1:p.Lys1386_Thr1651delinsSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682887", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676302.1:c.4156A>T" }, "RefSeq": { "hgvs": "NM_001291867.2:c.4156A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502262.1:p.Lys1386Ter" }, "RefSeq": { "hgvs": "NP_001278796.1:p.Lys1386Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826812191", "coordinates": [ { "allele": "T", "end": 3629, "referenceAllele": "A", "start": 3628 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.2:c.3562A>T" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Lys1188Ter", "hgvsWellDefined": "NP_001278797.1:p.Lys1188_Thr1453delinsSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682888" }, { "@id": "http://reg.genome.network/allele/PA658666347", "coordinates": [ { "allele": "T", "end": 4651, "referenceAllele": "A", "start": 4650 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.4:c.4093A>T" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Lys1365Ter", "hgvsWellDefined": "NP_938011.1:p.Lys1365_Thr1630delinsSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701298" } ], "type": "nucleotide" }