{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399013798", "communityStandardTitle": [ "NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538215[alleleid]", "alleleId": 538215, "preferredName": "NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547678", "RCV": [ "RCV000660097", "RCV001662722" ], "variationId": 547678 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.29664863C>A?assembly=hg19", "id": "chr17:g.29664863C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.31337845C>A?assembly=hg38", "id": "chr17:g.31337845C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555534918", "rs": 1555534918 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 31337845, "referenceAllele": "C", "start": 31337844 } ], "hgvs": [ "NC_000017.11:g.31337845C>A", "CM000679.2:g.31337845C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 29664863, "referenceAllele": "C", "start": 29664862 } ], "hgvs": [ "NC_000017.10:g.29664863C>A", "CM000679.1:g.29664863C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 26688989, "referenceAllele": "C", "start": 26688988 } ], "hgvs": [ "NC_000017.9:g.26688989C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 247869, "referenceAllele": "C", "start": 247868 } ], "hgvs": [ "NG_009018.1:g.247869C>A", "LRG_214:g.247869C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001383" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7034, "referenceAllele": "C", "start": 7033 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696138.1:c.6651C>A" ], "proteinEffect": { "hgvs": "ENSP00000512431.1:p.Cys2217Ter", "hgvsWellDefined": "ENSP00000512431.1:p.Cys2217_Ser2807delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAspThrAlaAlaThrGluPheLeuProAlaSerProLeuIleAsnLeuLeuAlaPheTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907613" }, { "coordinates": [ { "allele": "A", "end": 1942, "referenceAllele": "C", "start": 1941 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684826.1:c.1233C>A" ], "proteinEffect": { "hgvs": "ENSP00000509994.1:p.Cys411Ter", "hgvsWellDefined": "ENSP00000509994.1:p.Cys411_Val1045delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829750" }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "C", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684998.1:n.1783C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829833" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "C", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687027.1:c.825C>A" ], "proteinEffect": { "hgvs": "ENSP00000508715.1:p.Cys275Ter", "hgvsWellDefined": "ENSP00000508715.1:p.Cys275_Val891delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830869" }, { "coordinates": [ { "allele": "A", "end": 3314, "referenceAllele": "C", "start": 3313 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687863.1:n.3314C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831300" }, { "coordinates": [ { "allele": "A", "end": 7032, "referenceAllele": "C", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691014.1:c.6699C>A" ], "proteinEffect": { "hgvs": "ENSP00000510595.1:p.Cys2233Ter", "hgvsWellDefined": "ENSP00000510595.1:p.Cys2233_Val2849delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832991" }, { "coordinates": [ { "allele": "A", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000693617.1:c.1233C>A" ], "proteinEffect": { "hgvs": "ENSP00000510031.1:p.Cys411Ter", "hgvsWellDefined": "ENSP00000510031.1:p.Cys411_Val1027delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834335" }, { "coordinates": [ { "allele": "A", "end": 7002, "referenceAllele": "C", "start": 7001 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.9:c.6669C>A" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Cys2223Ter", "hgvsWellDefined": "ENSP00000351015.4:p.Cys2223_Val2839delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749046", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.6669C>A" }, "RefSeq": { "hgvs": "NM_001042492.3:c.6669C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Cys2223Ter" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Cys2223Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000356175.7:c.6606C>A" ], "proteinEffect": { "hgvs": "ENSP00000348498.3:p.Cys2202Ter", "hgvsWellDefined": "ENSP00000348498.3:p.Cys2202_Val2818delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263674" }, { "coordinates": [ { "allele": "A", "end": 7052, "referenceAllele": "C", "start": 7051 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.8:c.6669C>A" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Cys2223Ter", "hgvsWellDefined": "ENSP00000351015.4:p.Cys2223_Val2839delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264392" }, { "coordinates": [ { "allele": "A", "end": 5604, "referenceAllele": "C", "start": 5603 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000456735.6:c.5604C>A" ], "proteinEffect": { "hgvs": "ENSP00000389907.2:p.Cys1868Ter", "hgvsWellDefined": "ENSP00000389907.2:p.Cys1868_Val2502delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303624" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000471572.6:c.29C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313743" }, { "coordinates": [ { "allele": "A", "end": 6805, "referenceAllele": "C", "start": 6804 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000579081.5:c.6805C>A" ], "proteinEffect": { "hgvs": "ENSP00000462408.1:n.6805C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS385673" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000581790.5:c.29C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS386959" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000584328.1:n.83C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388162" }, { "@id": "http://reg.genome.network/allele/PA2825132782", "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_000267.3:c.6606C>A", "LRG_214t1:c.6606C>A" ], "proteinEffect": { "hgvs": "NP_000258.1:p.Cys2202Ter", "hgvsWellDefined": "NP_000258.1:p.Cys2202_Val2818delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006329" }, { "@id": "http://reg.genome.network/allele/PA658832016", "coordinates": [ { "allele": "A", "end": 7052, "referenceAllele": "C", "start": 7051 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.2:c.6669C>A", "LRG_214t2:c.6669C>A" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Cys2223Ter", "hgvsWellDefined": "NP_001035957.1:p.Cys2223_Val2839delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009721" }, { "coordinates": [ { "allele": "A", "end": 7002, "referenceAllele": "C", "start": 7001 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257983.1:c.6669C>A" ], "proteinEffect": { "hgvs": "XP_005258040.1:p.Cys2223Ter", "hgvsWellDefined": "XP_005258040.1:p.Cys2223_Val2857delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061916" }, { "coordinates": [ { "allele": "A", "end": 6939, "referenceAllele": "C", "start": 6938 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257984.1:c.6606C>A" ], "proteinEffect": { "hgvs": "XP_005258041.1:p.Cys2202Ter", "hgvsWellDefined": "XP_005258041.1:p.Cys2202_Val2836delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061917" }, { "coordinates": [ { "allele": "A", "end": 7032, "referenceAllele": "C", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721922.1:c.6699C>A" ], "proteinEffect": { "hgvs": "XP_006721985.1:p.Cys2233Ter", "hgvsWellDefined": "XP_006721985.1:p.Cys2233_Val2867delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074318" }, { "coordinates": [ { "allele": "A", "end": 7299, "referenceAllele": "C", "start": 7298 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721923.2:c.6660C>A" ], "proteinEffect": { "hgvs": "XP_006721986.1:p.Cys2220Ter", "hgvsWellDefined": "XP_006721986.1:p.Cys2220_Val2854delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074319" }, { "coordinates": [ { "allele": "A", "end": 7032, "referenceAllele": "C", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721924.1:c.6699C>A" ], "proteinEffect": { "hgvs": "XP_006721987.1:p.Cys2233Ter", "hgvsWellDefined": "XP_006721987.1:p.Cys2233_Val2849delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074320" }, { "coordinates": [ { "allele": "A", "end": 6969, "referenceAllele": "C", "start": 6968 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721925.1:c.6636C>A" ], "proteinEffect": { "hgvs": "XP_006721988.1:p.Cys2212Ter", "hgvsWellDefined": "XP_006721988.1:p.Cys2212_Val2846delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074321" }, { "coordinates": [ { "allele": "A", "end": 7032, "referenceAllele": "C", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721926.2:c.6699C>A" ], "proteinEffect": { "hgvs": "XP_006721989.1:p.Cys2233Ter", "hgvsWellDefined": "XP_006721989.1:p.Cys2233_Ser2823delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAspThrAlaAlaThrGluPheLeuProAlaSerProLeuIleAsnLeuLeuAlaPheTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074322" }, { "coordinates": [ { "allele": "A", "end": 7032, "referenceAllele": "C", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721927.1:c.6699C>A" ], "proteinEffect": { "hgvs": "XP_006721990.1:p.Cys2233Ter", "hgvsWellDefined": "XP_006721990.1:p.Cys2233_Ser2823delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAspThrAlaAlaThrGluPheLeuProAlaSerProLeuIleAsnLeuLeuAlaPheTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074323" }, { "coordinates": [ { "allele": "A", "end": 7029, "referenceAllele": "C", "start": 7028 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524852.1:c.6696C>A" ], "proteinEffect": { "hgvs": "XP_011523154.1:p.Cys2232Ter", "hgvsWellDefined": "XP_011523154.1:p.Cys2232_Val2866delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091972" }, { "coordinates": [ { "allele": "A", "end": 8490, "referenceAllele": "C", "start": 8489 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524853.1:c.6660C>A" ], "proteinEffect": { "hgvs": "XP_011523155.1:p.Cys2220Ter", "hgvsWellDefined": "XP_011523155.1:p.Cys2220_Val2854delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091973" }, { "coordinates": [ { "allele": "A", "end": 7525, "referenceAllele": "C", "start": 7524 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524854.1:c.6660C>A" ], "proteinEffect": { "hgvs": "XP_011523156.1:p.Cys2220Ter", "hgvsWellDefined": "XP_011523156.1:p.Cys2220_Val2854delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091974" }, { "coordinates": [ { "allele": "A", "end": 7557, "referenceAllele": "C", "start": 7556 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524855.1:c.6660C>A" ], "proteinEffect": { "hgvs": "XP_011523157.1:p.Cys2220Ter", "hgvsWellDefined": "XP_011523157.1:p.Cys2220_Val2854delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091975" }, { "coordinates": [ { "allele": "A", "end": 8235, "referenceAllele": "C", "start": 8234 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524856.1:c.6660C>A" ], "proteinEffect": { "hgvs": "XP_011523158.1:p.Cys2220Ter", "hgvsWellDefined": "XP_011523158.1:p.Cys2220_Val2854delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091976" }, { "coordinates": [ { "allele": "A", "end": 7032, "referenceAllele": "C", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.6699C>A" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Cys2233Ter", "hgvsWellDefined": "XP_011523159.1:p.Cys2233_Val2826delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "@id": "http://reg.genome.network/allele/PA658832016", "coordinates": [ { "allele": "A", "end": 7002, "referenceAllele": "C", "start": 7001 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.6669C>A" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Cys2223Ter", "hgvsWellDefined": "NP_001035957.1:p.Cys2223_Val2839delinsLysTrpLeuAspGlnTrpThrGluLeuAlaGlnArgPheAlaPheGlnTyrAsnProSerLeuGlnProArgAlaLeuValValPheGlyCysIleSerLysArgValSerHisGlyGlnIleLysGlnIleIleArgIleLeuSerLysAlaLeuGluSerCysLeuLysGlyProAspThrTyrAsnSerGlnValLeuIleGluAlaThrValIleAlaLeuThrLysLeuGlnProLeuLeuAsnLysAspSerProLeuHisLysAlaLeuPheTrpValAlaValAlaValLeuGlnLeuAspGluValAsnLeuTyrSerAlaGlyThrAlaLeuLeuGluGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.6669C>A" }, "RefSeq": { "hgvs": "NM_001042492.3:c.6669C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Cys2223Ter" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Cys2223Ter" } } } } ], "type": "nucleotide" }