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"XP_024302931.1:p.Lys383_Arg672delinsArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580760" }, { "coordinates": [ { "allele": "T", "end": 1529, "referenceAllele": "A", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447164.1:c.1147A>T" ], "proteinEffect": { "hgvs": "XP_024302932.1:p.Lys383Ter", "hgvsWellDefined": "XP_024302932.1:p.Lys383_Arg672delinsArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580761" }, { "coordinates": [ { "allele": "T", "end": 1578, "referenceAllele": "A", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.514A>T" ], "proteinEffect": { "hgvs": "XP_024302933.1:p.Lys172Ter", "hgvsWellDefined": "XP_024302933.1:p.Lys172_Arg461delinsArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580762" }, { "@id": "http://reg.genome.network/allele/PA1139706895", "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "A", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.1393A>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Lys465Ter", "hgvsWellDefined": "NP_002476.2:p.Lys465_Arg754delinsArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695554", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.1393A>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.1393A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Lys465Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Lys465Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825335193", "coordinates": [ { "allele": "T", "end": 1549, "referenceAllele": "A", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.1147A>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Lys383Ter", "hgvsWellDefined": "NP_001019859.1:p.Lys383_Arg672delinsArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }