{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA190280", "communityStandardTitle": [ "NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182843[alleleid]", "alleleId": 182843, "preferredName": "NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184862", "RCV": [ "RCV000164194", "RCV003462127", "RCV000456402" ], "variationId": 184862 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.90965594C>A?assembly=hg19", "id": "chr8:g.90965594C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.89953366C>A?assembly=hg38", "id": "chr8:g.89953366C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786201745", "rs": 786201745 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-89953366-C-A?dataset=gnomad_r4", "id": "8-89953366-C-A", "variant": "8:89953366 C / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 89953366, "referenceAllele": "C", "start": 89953365 } ], "hgvs": [ "NC_000008.11:g.89953366C>A", "CM000670.2:g.89953366C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 90965594, "referenceAllele": "C", "start": 90965593 } ], "hgvs": [ "NC_000008.10:g.90965594C>A", "CM000670.1:g.90965594C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 91034770, "referenceAllele": "C", "start": 91034769 } ], "hgvs": [ "NC_000008.9:g.91034770C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 36306, "referenceAllele": "G", "start": 36305 } ], "hgvs": [ "NG_008860.1:g.36306G>T", "LRG_158:g.36306G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001255" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "G", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000494804.2:n.3025G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905418" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000517337.2:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000429971.2:p.Glu493Ter", "hgvsWellDefined": "ENSP00000429971.2:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905570" }, { "coordinates": [ { "allele": "T", "end": 1936, "referenceAllele": "G", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000523444.2:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000428252.2:p.Glu493Ter", "hgvsWellDefined": "ENSP00000428252.2:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905631" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697292.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513229.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513229.1:p.Glu575_Arg754delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908669" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697293.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513230.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513230.1:p.Glu575_Arg771delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluLeuProPheTyrCysPheProHisTyrLeuLeuLeuGluPheGlnLeuAsnValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908670" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697294.1:c.*1334G>T" ], "proteinEffect": { "hgvs": "ENSP00000513231.1:n.*1334G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908671" }, { "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697295.1:c.*1032G>T" ], "proteinEffect": { "hgvs": "ENSP00000513232.1:n.*1032G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908672" }, { "coordinates": [ { "allele": "T", "end": 1678, "referenceAllele": "G", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697296.1:c.*1391G>T" ], "proteinEffect": { "hgvs": "ENSP00000513233.1:n.*1391G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908673" }, { "coordinates": [ { "allele": "T", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697297.1:n.3508G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908674" }, { "coordinates": [ { "allele": "T", "end": 2062, "referenceAllele": "G", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697298.1:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000513234.1:p.Glu493Ter", "hgvsWellDefined": "ENSP00000513234.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908675" }, { "coordinates": [ { "allele": "T", "end": 1695, "referenceAllele": "G", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697299.1:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000513235.1:p.Glu493Ter", "hgvsWellDefined": "ENSP00000513235.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908676" }, { "coordinates": [ { "allele": "T", "end": 1969, "referenceAllele": "G", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697300.1:c.*1327G>T" ], "proteinEffect": { "hgvs": "ENSP00000513236.1:n.*1327G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908677" }, { "coordinates": [ { "allele": "T", "end": 1838, "referenceAllele": "G", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697301.1:c.*1244G>T" ], "proteinEffect": { "hgvs": "ENSP00000513237.1:n.*1244G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908678" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697302.1:c.*1244G>T" ], "proteinEffect": { "hgvs": "ENSP00000513238.1:n.*1244G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908679" }, { "coordinates": [ { "allele": "T", "end": 1919, "referenceAllele": "G", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697303.1:c.*1327G>T" ], "proteinEffect": { "hgvs": "ENSP00000513239.1:n.*1327G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908680" }, { "coordinates": [ { "allele": "T", "end": 1521, "referenceAllele": "G", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697304.1:c.1411G>T" ], "proteinEffect": { "hgvs": "ENSP00000513240.1:p.Glu471Ter", "hgvsWellDefined": "ENSP00000513240.1:p.Glu471_Arg650delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908681" }, { "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "G", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697306.1:c.*723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513241.1:n.*723G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908683" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697307.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513242.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513242.1:p.Glu575_Arg679delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908684" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697308.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513243.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513243.1:p.Glu575_Arg731delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908685" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697309.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513244.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513244.1:p.Glu575_Lys782delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluIleGlnSerLeuPheLysLysGluLysIleThrGluAspPheLysLysLysProTrpLysAsnPheLeuValSerIleTyrPheArgProThrArgLeuTyrGluTyrIleValTyrArgSerAspLeuSerTyrAsnValLeuTrpProLysPheIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908686" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697310.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513245.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513245.1:p.Glu575_Arg754delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908687" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697311.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513246.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513246.1:p.Glu575_Lys732delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908688" }, { "coordinates": [ { "allele": "T", "end": 1725, "referenceAllele": "G", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697312.1:c.*1121G>T" ], "proteinEffect": { "hgvs": "ENSP00000513247.1:n.*1121G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908689" }, { "coordinates": [ { "allele": "T", "end": 2687, "endIntronDirection": "+", "endIntronOffset": 16998, "referenceAllele": "G", "start": 2687, "startIntronDirection": "+", "startIntronOffset": 16997 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697313.1:n.2687+16998G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908690" }, { "coordinates": [ { "allele": "T", "end": 3514, "referenceAllele": "G", "start": 3513 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697314.1:n.3514G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908691" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697315.1:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000513248.1:p.Glu575Ter", "hgvsWellDefined": "ENSP00000513248.1:p.Glu575_Gly734delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluSerProArgArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908692" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697316.1:n.1844G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908693" }, { "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697317.1:n.1833G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908694" }, { "coordinates": [ { "allele": "T", "end": 1835, "referenceAllele": "G", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000697318.1:n.1835G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908695" }, { "coordinates": [ { "allele": "T", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.8:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000265433.4:p.Glu575Ter", "hgvsWellDefined": "ENSP00000265433.4:p.Glu575_Arg754delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742836", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.1723G>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.1723G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Glu575Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Glu575Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1878, "referenceAllele": "G", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000265433.7:c.1723G>T" ], "proteinEffect": { "hgvs": "ENSP00000265433.3:p.Glu575Ter", "hgvsWellDefined": "ENSP00000265433.3:p.Glu575_Arg754delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251747" }, { "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000396252.6:c.*1596G>T" ], "proteinEffect": { "hgvs": "ENSP00000379551.2:n.*1596G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS277176" }, { "coordinates": [ { "allele": "T", "end": 1883, "referenceAllele": "G", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "ENST00000409330.5:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000386924.1:p.Glu493Ter", "hgvsWellDefined": "ENSP00000386924.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281455" }, { "@id": "http://reg.genome.network/allele/PA2825335505", "coordinates": [ { "allele": "T", "end": 1936, "referenceAllele": "G", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.2:c.1477G>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Glu493Ter", "hgvsWellDefined": "NP_001019859.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008789" }, { "@id": "http://reg.genome.network/allele/PA190282", "coordinates": [ { "allele": "T", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.4:c.1723G>T", "LRG_158t1:c.1723G>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Glu575Ter", "hgvsWellDefined": "NP_002476.2:p.Glu575_Arg754delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027787" }, { "coordinates": [ { "allele": "T", "end": 1714, "referenceAllele": "G", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517044.1:c.1699G>T" ], "proteinEffect": { "hgvs": "XP_011515346.1:p.Glu567Ter", "hgvsWellDefined": "XP_011515346.1:p.Glu567_Arg746delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084243" }, { "coordinates": [ { "allele": "T", "end": 1766, "referenceAllele": "G", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_011517045.1:c.1477G>T" ], "proteinEffect": { "hgvs": "XP_011515347.1:p.Glu493Ter", "hgvsWellDefined": "XP_011515347.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084244" }, { "coordinates": [ { "allele": "T", "end": 1862, "referenceAllele": "G", "start": 1861 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XR_928335.1:n.1862G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS124740" }, { "coordinates": [ { "allele": "T", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013460.1:c.844G>T" ], "proteinEffect": { "hgvs": "XP_016868949.1:p.Glu282Ter", "hgvsWellDefined": "XP_016868949.1:p.Glu282_Arg461delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566768" }, { "coordinates": [ { "allele": "T", "end": 1778, "referenceAllele": "G", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_017013462.2:c.844G>T" ], "proteinEffect": { "hgvs": "XP_016868951.1:p.Glu282Ter", "hgvsWellDefined": "XP_016868951.1:p.Glu282_Arg461delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566769" }, { "coordinates": [ { "allele": "T", "end": 1863, "referenceAllele": "G", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447163.1:c.1477G>T" ], "proteinEffect": { "hgvs": "XP_024302931.1:p.Glu493Ter", "hgvsWellDefined": "XP_024302931.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580760" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "G", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447164.1:c.1477G>T" ], "proteinEffect": { "hgvs": "XP_024302932.1:p.Glu493Ter", "hgvsWellDefined": "XP_024302932.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580761" }, { "coordinates": [ { "allele": "T", "end": 1908, "referenceAllele": "G", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.844G>T" ], "proteinEffect": { "hgvs": "XP_024302933.1:p.Glu282Ter", "hgvsWellDefined": "XP_024302933.1:p.Glu282_Arg461delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580762" }, { "@id": "http://reg.genome.network/allele/PA190282", "coordinates": [ { "allele": "T", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.1723G>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Glu575Ter", "hgvsWellDefined": "NP_002476.2:p.Glu575_Arg754delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695554", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.1723G>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.1723G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Glu575Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Glu575Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825335505", "coordinates": [ { "allele": "T", "end": 1879, "referenceAllele": "G", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.1477G>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Glu493Ter", "hgvsWellDefined": "NP_001019859.1:p.Glu493_Arg672delinsIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }