{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16615680", "communityStandardTitle": [ "NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402522[alleleid]", "alleleId": 402522, "preferredName": "NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404576", "RCV": [ "RCV000456532", "RCV003114579" ], "variationId": 404576 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.29667616G>T?assembly=hg19", "id": "chr17:g.29667616G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.31340598G>T?assembly=hg38", "id": "chr17:g.31340598G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500359", "rs": 1060500359 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 31340598, "referenceAllele": "G", "start": 31340597 } ], "hgvs": [ "NC_000017.11:g.31340598G>T", "CM000679.2:g.31340598G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 29667616, "referenceAllele": "G", "start": 29667615 } ], "hgvs": [ "NC_000017.10:g.29667616G>T", "CM000679.1:g.29667616G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 26691742, "referenceAllele": "G", "start": 26691741 } ], "hgvs": [ "NC_000017.9:g.26691742G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 250622, "referenceAllele": "G", "start": 250621 } ], "hgvs": [ "NG_009018.1:g.250622G>T", "LRG_214:g.250622G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001383" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7380, "referenceAllele": "G", "start": 7379 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696138.1:c.6997G>T" ], "proteinEffect": { "hgvs": "ENSP00000512431.1:p.Glu2333Ter", "hgvsWellDefined": "ENSP00000512431.1:p.Glu2333_Ser2807delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAspThrAlaAlaThrGluPheLeuProAlaSerProLeuIleAsnLeuLeuAlaPheTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907613" }, { "coordinates": [ { "allele": "T", "end": 2288, "referenceAllele": "G", "start": 2287 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684826.1:c.1579G>T" ], "proteinEffect": { "hgvs": "ENSP00000509994.1:p.Glu527Ter", "hgvsWellDefined": "ENSP00000509994.1:p.Glu527_Val1045delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829750" }, { "coordinates": [ { "allele": "T", "end": 4536, "referenceAllele": "G", "start": 4535 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684998.1:n.4536G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829833" }, { "coordinates": [ { "allele": "T", "end": 1948, "referenceAllele": "G", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687027.1:c.1171G>T" ], "proteinEffect": { "hgvs": "ENSP00000508715.1:p.Glu391Ter", "hgvsWellDefined": "ENSP00000508715.1:p.Glu391_Val891delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830869" }, { "coordinates": [ { "allele": "T", "end": 3660, "referenceAllele": "G", "start": 3659 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687863.1:n.3660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831300" }, { "coordinates": [ { "allele": "T", "end": 7378, "referenceAllele": "G", "start": 7377 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691014.1:c.7045G>T" ], "proteinEffect": { "hgvs": "ENSP00000510595.1:p.Glu2349Ter", "hgvsWellDefined": "ENSP00000510595.1:p.Glu2349_Val2849delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832991" }, { "coordinates": [ { "allele": "T", "end": 2464, "referenceAllele": "G", "start": 2463 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000693617.1:c.1579G>T" ], "proteinEffect": { "hgvs": "ENSP00000510031.1:p.Glu527Ter", "hgvsWellDefined": "ENSP00000510031.1:p.Glu527_Val1027delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834335" }, { "coordinates": [ { "allele": "T", "end": 7348, "referenceAllele": "G", "start": 7347 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.9:c.7015G>T" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Glu2339Ter", "hgvsWellDefined": "ENSP00000351015.4:p.Glu2339_Val2839delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749046", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.7015G>T" }, "RefSeq": { "hgvs": "NM_001042492.3:c.7015G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Glu2339Ter" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Glu2339Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7335, "referenceAllele": "G", "start": 7334 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000356175.7:c.6952G>T" ], "proteinEffect": { "hgvs": "ENSP00000348498.3:p.Glu2318Ter", "hgvsWellDefined": "ENSP00000348498.3:p.Glu2318_Val2818delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263674" }, { "coordinates": [ { "allele": "T", "end": 7398, "referenceAllele": "G", "start": 7397 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.8:c.7015G>T" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Glu2339Ter", "hgvsWellDefined": "ENSP00000351015.4:p.Glu2339_Val2839delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264392" }, { "coordinates": [ { "allele": "T", "end": 5950, "referenceAllele": "G", "start": 5949 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000456735.6:c.5950G>T" ], "proteinEffect": { "hgvs": "ENSP00000389907.2:p.Glu1984Ter", "hgvsWellDefined": "ENSP00000389907.2:p.Glu1984_Val2502delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303624" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000471572.6:c.398G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313743" }, { "coordinates": [ { "allele": "T", "end": 7151, "referenceAllele": "G", "start": 7150 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000579081.5:c.7151G>T" ], "proteinEffect": { "hgvs": "ENSP00000462408.1:n.7151G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS385673" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000581790.5:c.158G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS386959" }, { "coordinates": [ { "allele": "T", "end": 304, "endIntronDirection": "+", "endIntronOffset": 15, "referenceAllele": "G", "start": 304, "startIntronDirection": "+", "startIntronOffset": 14 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000582892.1:n.304+15G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS387487" }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000584328.1:n.429G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388162" }, { "@id": "http://reg.genome.network/allele/PA2825133371", "coordinates": [ { "allele": "T", "end": 7335, "referenceAllele": "G", "start": 7334 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_000267.3:c.6952G>T", "LRG_214t1:c.6952G>T" ], "proteinEffect": { "hgvs": "NP_000258.1:p.Glu2318Ter", "hgvsWellDefined": "NP_000258.1:p.Glu2318_Val2818delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006329" }, { "@id": "http://reg.genome.network/allele/PA645388089", "coordinates": [ { "allele": "T", "end": 7398, "referenceAllele": "G", "start": 7397 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.2:c.7015G>T", "LRG_214t2:c.7015G>T" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Glu2339Ter", "hgvsWellDefined": "NP_001035957.1:p.Glu2339_Val2839delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009721" }, { "coordinates": [ { "allele": "T", "end": 7348, "referenceAllele": "G", "start": 7347 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257983.1:c.7015G>T" ], "proteinEffect": { "hgvs": "XP_005258040.1:p.Glu2339Ter", "hgvsWellDefined": "XP_005258040.1:p.Glu2339_Val2857delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061916" }, { "coordinates": [ { "allele": "T", "end": 7285, "referenceAllele": "G", "start": 7284 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257984.1:c.6952G>T" ], "proteinEffect": { "hgvs": "XP_005258041.1:p.Glu2318Ter", "hgvsWellDefined": "XP_005258041.1:p.Glu2318_Val2836delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061917" }, { "coordinates": [ { "allele": "T", "end": 7378, "referenceAllele": "G", "start": 7377 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721922.1:c.7045G>T" ], "proteinEffect": { "hgvs": "XP_006721985.1:p.Glu2349Ter", "hgvsWellDefined": "XP_006721985.1:p.Glu2349_Val2867delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074318" }, { "coordinates": [ { "allele": "T", "end": 7645, "referenceAllele": "G", "start": 7644 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721923.2:c.7006G>T" ], "proteinEffect": { "hgvs": "XP_006721986.1:p.Glu2336Ter", "hgvsWellDefined": "XP_006721986.1:p.Glu2336_Val2854delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074319" }, { "coordinates": [ { "allele": "T", "end": 7378, "referenceAllele": "G", "start": 7377 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721924.1:c.7045G>T" ], "proteinEffect": { "hgvs": "XP_006721987.1:p.Glu2349Ter", "hgvsWellDefined": "XP_006721987.1:p.Glu2349_Val2849delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074320" }, { "coordinates": [ { "allele": "T", "end": 7315, "referenceAllele": "G", "start": 7314 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721925.1:c.6982G>T" ], "proteinEffect": { "hgvs": "XP_006721988.1:p.Glu2328Ter", "hgvsWellDefined": "XP_006721988.1:p.Glu2328_Val2846delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074321" }, { "coordinates": [ { "allele": "T", "end": 7378, "referenceAllele": "G", "start": 7377 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721926.2:c.7045G>T" ], "proteinEffect": { "hgvs": "XP_006721989.1:p.Glu2349Ter", "hgvsWellDefined": "XP_006721989.1:p.Glu2349_Ser2823delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAspThrAlaAlaThrGluPheLeuProAlaSerProLeuIleAsnLeuLeuAlaPheTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074322" }, { "coordinates": [ { "allele": "T", "end": 7378, "referenceAllele": "G", "start": 7377 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721927.1:c.7045G>T" ], "proteinEffect": { "hgvs": "XP_006721990.1:p.Glu2349Ter", "hgvsWellDefined": "XP_006721990.1:p.Glu2349_Ser2823delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAspThrAlaAlaThrGluPheLeuProAlaSerProLeuIleAsnLeuLeuAlaPheTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074323" }, { "coordinates": [ { "allele": "T", "end": 7375, "referenceAllele": "G", "start": 7374 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524852.1:c.7042G>T" ], "proteinEffect": { "hgvs": "XP_011523154.1:p.Glu2348Ter", "hgvsWellDefined": "XP_011523154.1:p.Glu2348_Val2866delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091972" }, { "coordinates": [ { "allele": "T", "end": 8836, "referenceAllele": "G", "start": 8835 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524853.1:c.7006G>T" ], "proteinEffect": { "hgvs": "XP_011523155.1:p.Glu2336Ter", "hgvsWellDefined": "XP_011523155.1:p.Glu2336_Val2854delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091973" }, { "coordinates": [ { "allele": "T", "end": 7871, "referenceAllele": "G", "start": 7870 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524854.1:c.7006G>T" ], "proteinEffect": { "hgvs": "XP_011523156.1:p.Glu2336Ter", "hgvsWellDefined": "XP_011523156.1:p.Glu2336_Val2854delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091974" }, { "coordinates": [ { "allele": "T", "end": 7903, "referenceAllele": "G", "start": 7902 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524855.1:c.7006G>T" ], "proteinEffect": { "hgvs": "XP_011523157.1:p.Glu2336Ter", "hgvsWellDefined": "XP_011523157.1:p.Glu2336_Val2854delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091975" }, { "coordinates": [ { "allele": "T", "end": 8581, "referenceAllele": "G", "start": 8580 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524856.1:c.7006G>T" ], "proteinEffect": { "hgvs": "XP_011523158.1:p.Glu2336Ter", "hgvsWellDefined": "XP_011523158.1:p.Glu2336_Val2854delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091976" }, { "coordinates": [ { "allele": "T", "end": 7378, "referenceAllele": "G", "start": 7377 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.7045G>T" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Glu2349Ter", "hgvsWellDefined": "XP_011523159.1:p.Glu2349_Val2826delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProAlaSerLeuProCysSerLysSerAlaValPheMetGlnLeuPheProHisGlnGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "@id": "http://reg.genome.network/allele/PA645388089", "coordinates": [ { "allele": "T", "end": 7348, "referenceAllele": "G", "start": 7347 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.7015G>T" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Glu2339Ter", "hgvsWellDefined": "NP_001035957.1:p.Glu2339_Val2839delinsGlnAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysSerProGluGluValPheMetAlaIleArgAsnProLeuGluTrpHisCysLysGlnMetAspHisPheValGlyLeuAsnPheAsnSerAsnPheAsnPheAlaLeuValGlyHisLeuLeuLysGlyTyrArgHisProSerProAlaIleValAlaArgThrValArgIleLeuHisThrLeuLeuThrLeuValAsnLysHisArgAsnCysAspLysPheGluValAsnThrGlnSerValAlaTyrLeuAlaAlaLeuLeuThrValSerGluGluValArgSerArgCysSerLeuLysHisArgLysSerLeuLeuLeuThrAspIleSerMetGluAsnValProMetAspThrTyrProIleHisHisGlyAspProSerTyrArgThrLeuLysGluThrGlnProTrpSerSerProLysGlySerGluGlyTyrLeuAlaAlaThrTyrProThrValGlyGlnThrSerProArgAlaArgLysSerMetSerLeuAspMetGlyGlnProSerGlnAlaAsnThrLysLysLeuLeuGlyThrArgLysSerPheAspHisLeuIleSerAspThrLysAlaProLysArgGlnGluMetGluSerGlyIleThrThrProProLysMetArgArgValAlaGluThrAspTyrGluMetGluThrGlnArgIleSerSerSerGlnGlnHisProHisLeuArgLysValSerValSerGluSerAsnValLeuLeuAspGluGluValLeuThrAspProLysIleGlnAlaLeuLeuLeuThrValLeuAlaThrLeuValLysTyrThrThrAspGluPheAspGlnArgIleLeuTyrGluTyrLeuAlaGluAlaSerValValPheProLysValPheProValValHisAsnLeuLeuAspSerLysIleAsnThrLeuLeuSerLeuCysGlnAspProAsnLeuLeuAsnProIleHisGlyIleValGlnSerValValTyrHisGluGluSerProProGlnTyrGlnThrSerTyrLeuGlnSerPheGlyPheAsnGlyLeuTrpArgPheAlaGlyProPheSerLysGlnThrGlnIleProAspTyrAlaGluLeuIleValLysPheLeuAspAlaLeuIleAspThrTyrLeuProGlyIleAspGluGluThrSerGluGluSerLeuLeuThrProThrSerProTyrProProAlaLeuGlnSerGlnLeuSerIleThrAlaAsnLeuAsnLeuSerAsnSerMetThrSerLeuAlaThrSerGlnHisSerProGlyIleAspLysGluAsnValGluLeuSerProThrThrGlyHisCysAsnSerGlyArgThrArgHisGlySerAlaSerGlnValGlnLysGlnArgSerAlaGlySerPheLysArgAsnSerIleLysLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.7015G>T" }, "RefSeq": { "hgvs": "NM_001042492.3:c.7015G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Glu2339Ter" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Glu2339Ter" } } } } ], "type": "nucleotide" }