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"end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697307.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513242.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513242.1:p.Trp2_Arg679delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908684" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697308.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513243.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513243.1:p.Trp2_Arg731delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908685" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697309.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513244.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513244.1:p.Trp2_Lys782delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluIleGlnSerLeuPheLysLysGluLysIleThrGluAspPheLysLysLysProTrpLysAsnPheLeuValSerIleTyrPheArgProThrArgLeuTyrGluTyrIleValTyrArgSerAspLeuSerTyrAsnValLeuTrpProLysPheIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908686" }, { "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697310.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513245.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513245.1:p.Trp2_Arg754delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908687" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697311.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513246.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513246.1:p.Trp2_Lys732delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908688" }, { "coordinates": [ { "allele": "A", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697312.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513247.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513247.1:p.Trp2_Ser165delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysPheLeuProThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908689" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "G", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697313.1:n.118G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908690" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "G", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697314.1:n.118G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908691" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697315.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000513248.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000513248.1:p.Trp2_Gly734delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluSerProArgArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908692" }, { "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697316.1:n.127G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908693" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697317.1:n.116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908694" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "G", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697318.1:n.118G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908695" }, { "coordinates": [ { "allele": "A", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.8:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000265433.4:p.Trp2Ter", "hgvsWellDefined": "ENSP00000265433.4:p.Trp2_Arg754delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742836", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.6G>A" }, "RefSeq": { "hgvs": "NM_002485.5:c.6G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Trp2Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Trp2Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.7:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000265433.3:p.Trp2Ter", "hgvsWellDefined": "ENSP00000265433.3:p.Trp2_Arg754delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251747" }, { "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000396252.6:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000379551.2:p.Trp2Ter", "hgvsWellDefined": "ENSP00000379551.2:p.Trp2_Val58delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277176" }, { "coordinates": [ { "allele": "A", "end": 110, "referenceAllele": "G", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000494804.1:n.110G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331645" }, { "coordinates": [ { "allele": "A", "end": 64, "referenceAllele": "G", "start": 63 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000519426.5:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000430983.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000430983.1:p.Trp2_Gly159del" }, "referenceSequence": "http://reg.genome.network/refseq/RS346672" }, { "coordinates": [ { "allele": "A", "end": 64, "referenceAllele": "G", "start": 63 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000523444.1:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000428252.1:p.Trp2Ter", "hgvsWellDefined": "ENSP00000428252.1:p.Trp2_Val58delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS349826" }, { "coordinates": [ { "allele": "A", "end": 169, "referenceAllele": "G", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.2:c.-291G>A" ], "proteinEffect": { "hgvs": "NP_001019859.1:n.-291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008789" }, { "@id": "http://reg.genome.network/allele/PA645465185", "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.4:c.6G>A", "LRG_158t1:c.6G>A" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Trp2Ter", "hgvsWellDefined": "NP_002476.2:p.Trp2_Arg754delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027787" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517046.1:c.6G>A" ], "proteinEffect": { "hgvs": "XP_011515348.1:p.Trp2Ter", "hgvsWellDefined": "XP_011515348.1:p.Trp2_Gly469delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysLysGlyLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084245" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XR_928335.1:n.143G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124740" }, { "coordinates": [ { "allele": "A", "end": 60, "referenceAllele": "G", "start": 59 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013460.1:c.-1014G>A" ], "proteinEffect": { "hgvs": "XP_016868949.1:n.-1014G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS566768" }, { "coordinates": [ { "allele": "A", "end": 115, "referenceAllele": "G", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013462.2:c.-820G>A" ], "proteinEffect": { "hgvs": "XP_016868951.1:n.-820G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS566769" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "G", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.-964G>A" ], "proteinEffect": { "hgvs": "XP_024302933.1:n.-964G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580762" }, { "@id": "http://reg.genome.network/allele/PA645465185", "coordinates": [ { "allele": "A", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.6G>A" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Trp2Ter", "hgvsWellDefined": "NP_002476.2:p.Trp2_Arg754delinsLysLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695554", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.6G>A" }, "RefSeq": { "hgvs": "NM_002485.5:c.6G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Trp2Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Trp2Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.-291G>A" ], "proteinEffect": { "hgvs": "NP_001019859.1:n.-291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }