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"http://reg.genome.network/refseq/RS908684" }, { "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697308.1:c.1124G>A" ], "proteinEffect": { "hgvs": "ENSP00000513243.1:p.Trp375Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908686" }, { "coordinates": [ { "allele": "A", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697310.1:c.1124G>A" ], "proteinEffect": { "hgvs": "ENSP00000513245.1:p.Trp375Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908687" }, { "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697311.1:c.1124G>A" ], "proteinEffect": { "hgvs": "ENSP00000513246.1:p.Trp375Ter", "hgvsWellDefined": 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4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697314.1:n.2915G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908691" }, { "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697315.1:c.1124G>A" ], "proteinEffect": { "hgvs": "ENSP00000513248.1:p.Trp375Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742836", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.1124G>A" }, "RefSeq": { "hgvs": "NM_002485.5:c.1124G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Trp375Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Trp375Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.7:c.1124G>A" ], "proteinEffect": { "hgvs": "ENSP00000265433.3:p.Trp375Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281455" }, { "@id": "http://reg.genome.network/allele/PA2825334928", "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "G", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.2:c.878G>A" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Trp293Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS008789" }, { "@id": "http://reg.genome.network/allele/PA645465877", "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.4:c.1124G>A", "LRG_158t1:c.1124G>A" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Trp375Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS027787" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517044.1:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011515346.1:p.Trp367Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084243" }, { "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517045.1:c.878G>A" ], "proteinEffect": { "hgvs": "XP_011515347.1:p.Trp293Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS084244" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517046.1:c.1124G>A" ], "proteinEffect": { "hgvs": "XP_011515348.1:p.Trp375Ter", "hgvsWellDefined": "XP_011515348.1:p.Trp375_Gly469delinsAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysLysGlyLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084245" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XR_928335.1:n.1261G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124740" }, { "coordinates": [ { "allele": "A", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013460.1:c.245G>A" ], "proteinEffect": { "hgvs": "XP_016868949.1:p.Trp82Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566768" }, { "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "G", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013462.2:c.245G>A" ], "proteinEffect": { "hgvs": "XP_016868951.1:p.Trp82Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS566769" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447163.1:c.878G>A" ], "proteinEffect": { "hgvs": "XP_024302931.1:p.Trp293Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580760" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447164.1:c.878G>A" ], "proteinEffect": { "hgvs": "XP_024302932.1:p.Trp293Ter", "hgvsWellDefined": "XP_024302932.1:p.Trp293_Arg672delinsAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580761" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.245G>A" ], "proteinEffect": { "hgvs": "XP_024302933.1:p.Trp82Ter", "hgvsWellDefined": "XP_024302933.1:p.Trp82_Arg461delinsAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580762" }, { "@id": "http://reg.genome.network/allele/PA645465877", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.1124G>A" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Trp375Ter", "hgvsWellDefined": "NP_002476.2:p.Trp375_Arg754delinsAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695554", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.1124G>A" }, "RefSeq": { "hgvs": "NM_002485.5:c.1124G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Trp375Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Trp375Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825334928", "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.878G>A" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Trp293Ter", "hgvsWellDefined": "NP_001019859.1:p.Trp293_Arg672delinsAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }