{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA371661690", "communityStandardTitle": [ "NM_002485.5(NBN):c.436G>T (p.Glu146Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925279[alleleid]", "alleleId": 925279, "preferredName": "NM_002485.5(NBN):c.436G>T (p.Glu146Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/949452", "RCV": [ "RCV001220913", "RCV002327522" ], "variationId": 949452 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.90993006C>A?assembly=hg19", "id": "chr8:g.90993006C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.89980778C>A?assembly=hg38", "id": "chr8:g.89980778C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1812023357", "rs": 1812023357 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 89980778, "referenceAllele": "C", "start": 89980777 } ], "hgvs": [ "NC_000008.11:g.89980778C>A", "CM000670.2:g.89980778C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 90993006, "referenceAllele": "C", "start": 90993005 } ], "hgvs": [ "NC_000008.10:g.90993006C>A", "CM000670.1:g.90993006C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 91062182, "referenceAllele": "C", "start": 91062181 } ], "hgvs": [ "NC_000008.9:g.91062182C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 8894, "referenceAllele": "G", "start": 8893 } ], "hgvs": [ "NG_008860.1:g.8894G>T", "LRG_158:g.8894G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001255" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000494804.2:n.1738G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905418" }, { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000517337.2:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000429971.2:p.Glu64Ter", "hgvsWellDefined": "ENSP00000429971.2:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905570" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000523444.2:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000428252.2:p.Glu64Ter", "hgvsWellDefined": "ENSP00000428252.2:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905631" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697292.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513229.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513229.1:p.Glu146_Arg754delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908669" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697293.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513230.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513230.1:p.Glu146_Arg771delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluLeuProPheTyrCysPheProHisTyrLeuLeuLeuGluPheGlnLeuAsnValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908670" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697294.1:c.395G>T" ], "proteinEffect": { "hgvs": "ENSP00000513231.1:p.Arg132Ile", "hgvsWellDefined": "ENSP00000513231.1:p.Arg132Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS908671" }, { "coordinates": [ { "allele": "T", "end": 124, "endIntronDirection": "+", "endIntronOffset": 3747, "referenceAllele": "G", "start": 124, "startIntronDirection": "+", "startIntronOffset": 3746 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697295.1:c.37+3747G>T" ], "proteinEffect": { "hgvs": "ENSP00000513232.1:n.37+3747G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908672" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697296.1:c.*104G>T" ], "proteinEffect": { "hgvs": "ENSP00000513233.1:n.*104G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908673" }, { "coordinates": [ { "allele": "T", "end": 2221, "referenceAllele": "G", "start": 2220 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697297.1:n.2221G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908674" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697298.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000513234.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000513234.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908675" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697299.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000513235.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000513235.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908676" }, { "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697300.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000513236.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000513236.1:p.Glu64_Ser79delinsCysThrHisLeuValMetValSerValLysValThrIleLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908677" }, { "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697301.1:c.149G>T" ], "proteinEffect": { "hgvs": "ENSP00000513237.1:p.Arg50Ile", "hgvsWellDefined": "ENSP00000513237.1:p.Arg50Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS908678" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "G", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697302.1:c.395G>T" ], "proteinEffect": { "hgvs": "ENSP00000513238.1:p.Arg132Ile", "hgvsWellDefined": "ENSP00000513238.1:p.Arg132Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS908679" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697303.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513239.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513239.1:p.Glu146_Ser161delinsCysThrHisLeuValMetValSerValLysValThrIleLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908680" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697304.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513240.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513240.1:p.Glu146_Arg650delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908681" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697306.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513241.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513241.1:p.Glu146_Asp161delinsCysThrHisLeuValMetValSerValLysValThrIleLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908683" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697307.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513242.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513242.1:p.Glu146_Arg679delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908684" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697308.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513243.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513243.1:p.Glu146_Arg731delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908685" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697309.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513244.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513244.1:p.Glu146_Lys782delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluIleGlnSerLeuPheLysLysGluLysIleThrGluAspPheLysLysLysProTrpLysAsnPheLeuValSerIleTyrPheArgProThrArgLeuTyrGluTyrIleValTyrArgSerAspLeuSerTyrAsnValLeuTrpProLysPheIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908686" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697310.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513245.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513245.1:p.Glu146_Arg754delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908687" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697311.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513246.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513246.1:p.Glu146_Lys732delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908688" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697312.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513247.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513247.1:p.Glu146_Ser165delinsCysThrHisLeuValMetValSerValLysValThrIleLysPheLeuProThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908689" }, { "coordinates": [ { "allele": "T", "end": 2227, "referenceAllele": "G", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697313.1:n.2227G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908690" }, { "coordinates": [ { "allele": "T", "end": 2227, "referenceAllele": "G", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697314.1:n.2227G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908691" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697315.1:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000513248.1:p.Glu146Ter", "hgvsWellDefined": "ENSP00000513248.1:p.Glu146_Gly734delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluSerProArgArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908692" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697316.1:n.557G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908693" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697317.1:n.546G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908694" }, { "coordinates": [ { "allele": "T", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697318.1:n.548G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908695" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.8:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000265433.4:p.Glu146Ter", "hgvsWellDefined": "ENSP00000265433.4:p.Glu146_Arg754delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742836", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.436G>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.436G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Glu146Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Glu146Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.7:c.436G>T" ], "proteinEffect": { "hgvs": "ENSP00000265433.3:p.Glu146Ter", "hgvsWellDefined": "ENSP00000265433.3:p.Glu146_Arg754delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251747" }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "G", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000396252.6:c.*309G>T" ], "proteinEffect": { "hgvs": "ENSP00000379551.2:n.*309G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS277176" }, { "coordinates": [ { "allele": "T", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000409330.5:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000386924.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000386924.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281455" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000517337.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000429971.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000429971.1:p.Glu64_Pro92del" }, "referenceSequence": "http://reg.genome.network/refseq/RS345043" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "G", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000517772.5:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000428717.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000428717.1:p.Glu64_Gly165del" }, "referenceSequence": "http://reg.genome.network/refseq/RS345369" }, { "coordinates": [ { "allele": "T", "end": 378, "endIntronDirection": "+", "endIntronOffset": 597, "referenceAllele": "G", "start": 378, "startIntronDirection": "+", "startIntronOffset": 596 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000519426.5:c.320+597G>T" ], "proteinEffect": { "hgvs": "ENSP00000430983.1:n.320+597G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346672" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000523444.1:c.*268G>T" ], "proteinEffect": { "hgvs": "ENSP00000428252.1:n.*268G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS349826" }, { "@id": "http://reg.genome.network/allele/PA1139668563", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.2:c.190G>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Glu64Ter", "hgvsWellDefined": "NP_001019859.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008789" }, { "@id": "http://reg.genome.network/allele/PA2829400344", "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.4:c.436G>T", "LRG_158t1:c.436G>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Glu146Ter", "hgvsWellDefined": "NP_002476.2:p.Glu146_Arg754delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027787" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "G", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517044.1:c.412G>T" ], "proteinEffect": { "hgvs": "XP_011515346.1:p.Glu138Ter", "hgvsWellDefined": "XP_011515346.1:p.Glu138_Arg746delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084243" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517045.1:c.190G>T" ], "proteinEffect": { "hgvs": "XP_011515347.1:p.Glu64Ter", "hgvsWellDefined": "XP_011515347.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084244" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517046.1:c.436G>T" ], "proteinEffect": { "hgvs": "XP_011515348.1:p.Glu146Ter", "hgvsWellDefined": "XP_011515348.1:p.Glu146_Gly469delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysLysGlyLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084245" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XR_928335.1:n.573G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS124740" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013460.1:c.-534G>T" ], "proteinEffect": { "hgvs": "XP_016868949.1:n.-534G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566768" }, { "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013462.2:c.-340G>T" ], "proteinEffect": { "hgvs": "XP_016868951.1:n.-340G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566769" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "G", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447163.1:c.190G>T" ], "proteinEffect": { "hgvs": "XP_024302931.1:p.Glu64Ter", "hgvsWellDefined": "XP_024302931.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580760" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "G", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447164.1:c.190G>T" ], "proteinEffect": { "hgvs": "XP_024302932.1:p.Glu64Ter", "hgvsWellDefined": "XP_024302932.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580761" }, { "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.-534G>T" ], "proteinEffect": { "hgvs": "XP_024302933.1:n.-534G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580762" }, { "@id": "http://reg.genome.network/allele/PA2829400344", "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.436G>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Glu146Ter", "hgvsWellDefined": "NP_002476.2:p.Glu146_Arg754delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695554", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.436G>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.436G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Glu146Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Glu146Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139668563", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.190G>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Glu64Ter", "hgvsWellDefined": "NP_001019859.1:p.Glu64_Arg672delinsCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }