{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4803108", "communityStandardTitle": [ "NM_002485.5(NBN):c.7A>T (p.Lys3Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=484024[alleleid]", "alleleId": 484024, "preferredName": "NM_002485.5(NBN):c.7A>T (p.Lys3Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/492131", "RCV": [ "RCV000581960", "RCV000707330" ], "variationId": 492131 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-90996783-T-A", "id": "8-90996783-T-A", "variant": "8:90996783 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.90996783T>A?assembly=hg19", "id": "chr8:g.90996783T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.89984555T>A?assembly=hg38", "id": "chr8:g.89984555T>A" } ], "dbSNP": [ { "@id": 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"http://reg.genome.network/refseq/RS908673" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697297.1:n.113A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908674" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697298.1:c.-473A>T" ], "proteinEffect": { "hgvs": "ENSP00000513234.1:n.-473A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908675" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697299.1:c.-106A>T" ], "proteinEffect": { "hgvs": "ENSP00000513235.1:n.-106A>T" }, "referenceSequence": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908681" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697306.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513241.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513241.1:p.Lys3_Asp161delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908683" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697307.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513242.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513242.1:p.Lys3_Arg679delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908684" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697308.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513243.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513243.1:p.Lys3_Arg731delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908685" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697309.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513244.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513244.1:p.Lys3_Lys782delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluIleGlnSerLeuPheLysLysGluLysIleThrGluAspPheLysLysLysProTrpLysAsnPheLeuValSerIleTyrPheArgProThrArgLeuTyrGluTyrIleValTyrArgSerAspLeuSerTyrAsnValLeuTrpProLysPheIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908686" }, { "coordinates": [ { "allele": "T", "end": 128, "referenceAllele": "A", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697310.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513245.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513245.1:p.Lys3_Arg754delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908687" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697311.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513246.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513246.1:p.Lys3_Lys732delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908688" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697312.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513247.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513247.1:p.Lys3_Ser165delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysPheLeuProThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908689" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "A", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697313.1:n.119A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908690" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "A", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697314.1:n.119A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908691" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697315.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000513248.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000513248.1:p.Lys3_Gly734delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluSerProArgArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908692" }, { "coordinates": [ { "allele": "T", "end": 128, "referenceAllele": "A", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697316.1:n.128A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908693" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697317.1:n.117A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908694" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "A", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697318.1:n.119A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908695" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.8:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000265433.4:p.Lys3Ter", "hgvsWellDefined": "ENSP00000265433.4:p.Lys3_Arg754delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742836", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.7A>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.7A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Lys3Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Lys3Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 162, "referenceAllele": "A", "start": 161 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.7:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000265433.3:p.Lys3Ter", "hgvsWellDefined": "ENSP00000265433.3:p.Lys3_Arg754delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251747" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "A", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000396252.6:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000379551.2:p.Lys3Ter", "hgvsWellDefined": "ENSP00000379551.2:p.Lys3_Val58delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277176" }, { "coordinates": [ { "allele": "T", "end": 111, "referenceAllele": "A", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000494804.1:n.111A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331645" }, { "coordinates": [ { "allele": "T", "end": 65, "referenceAllele": "A", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000519426.5:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000430983.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000430983.1:p.Lys3_Gly159del" }, "referenceSequence": "http://reg.genome.network/refseq/RS346672" }, { "coordinates": [ { "allele": "T", "end": 65, "referenceAllele": "A", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000523444.1:c.7A>T" ], "proteinEffect": { "hgvs": "ENSP00000428252.1:p.Lys3Ter", "hgvsWellDefined": "ENSP00000428252.1:p.Lys3_Val58delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS349826" }, { "coordinates": [ { "allele": "T", "end": 170, "referenceAllele": "A", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.2:c.-290A>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:n.-290A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS008789" }, { "@id": "http://reg.genome.network/allele/PA658729197", "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "A", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.4:c.7A>T", "LRG_158t1:c.7A>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Lys3Ter", "hgvsWellDefined": "NP_002476.2:p.Lys3_Arg754delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027787" }, { "coordinates": [ { "allele": "T", "end": 144, "referenceAllele": "A", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517046.1:c.7A>T" ], "proteinEffect": { "hgvs": "XP_011515348.1:p.Lys3Ter", "hgvsWellDefined": "XP_011515348.1:p.Lys3_Gly469delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysLysGlyLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084245" }, { "coordinates": [ { "allele": "T", "end": 144, "referenceAllele": "A", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XR_928335.1:n.144A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS124740" }, { "coordinates": [ { "allele": "T", "end": 61, "referenceAllele": "A", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013460.1:c.-1013A>T" ], "proteinEffect": { "hgvs": "XP_016868949.1:n.-1013A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566768" }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "A", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013462.2:c.-819A>T" ], "proteinEffect": { "hgvs": "XP_016868951.1:n.-819A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566769" }, { "coordinates": [ { "allele": "T", "end": 102, "referenceAllele": "A", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.-963A>T" ], "proteinEffect": { "hgvs": "XP_024302933.1:n.-963A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580762" }, { "@id": "http://reg.genome.network/allele/PA658729197", "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.7A>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Lys3Ter", "hgvsWellDefined": "NP_002476.2:p.Lys3_Arg754delinsLeuLeuProAlaAlaGlyProAlaGlyGlyGluProTyrArgLeuLeuThrGlyValGluTyrValValGlyArgLysAsnCysAlaIleLeuIleGluAsnAspGlnSerIleSerArgAsnHisAlaValLeuThrAlaAsnPheSerValThrAsnLeuSerGlnThrAspGluIleProValLeuThrLeuLysAspAsnSerLysTyrGlyThrPheValAsnGluGluLysMetGlnAsnGlyPheSerArgThrLeuLysSerGlyAspGlyIleThrPheGlyValPheGlySerLysPheArgIleGluTyrGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695554", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.7A>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.7A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Lys3Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Lys3Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "A", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.-290A>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:n.-290A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }