{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA386791313", "communityStandardTitle": [ "NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325059[alleleid]", "alleleId": 1325059, "preferredName": "NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334199", "RCV": [ "RCV003128275" ], "variationId": 1334199 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.112915718C>T?assembly=hg19", "id": "chr12:g.112915718C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.112477914C>T?assembly=hg38", "id": "chr12:g.112477914C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2135901920", "rs": 2135901920 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 112477914, "referenceAllele": "C", "start": 112477913 } ], "hgvs": [ "NC_000012.12:g.112477914C>T", "CM000674.2:g.112477914C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 112915718, "referenceAllele": "C", "start": 112915717 } ], "hgvs": [ "NC_000012.11:g.112915718C>T", "CM000674.1:g.112915718C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 111400101, "referenceAllele": "C", "start": 111400100 } ], "hgvs": [ "NC_000012.10:g.111400101C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 64183, "referenceAllele": "C", "start": 64182 } ], "hgvs": [ "NG_007459.1:g.64183C>T", "LRG_614:g.64183C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000585" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "ENST00000639857.2:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000491593.2:p.Gln331Ter", "hgvsWellDefined": "ENSP00000491593.2:p.Gln331_Pro578delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluCysGlyLeuSerProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826691" }, { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "ENST00000685487.1:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000508503.1:p.Gln331Ter", "hgvsWellDefined": "ENSP00000508503.1:p.Gln331_Ala536delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnValProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830103" }, { "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "ENST00000687906.1:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000509536.1:p.Gln293Ter", "hgvsWellDefined": 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"ENSP00000509272.1:p.Gln331_Arg671delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaAspAlaIleGlnMetProHisProThrGlyLeuLeuLysThrThrCysPheLeuProAspProArgGluHisGlnAspLeuArgLeuLeuLeuHisPheCysCysPhePheGluMetGluSerArgSerValAlaGlnAlaGlyValGlnTrpHisAspLeuCysSerLeuGlnProProSerProGluPheLysArgPhePheCysLeuSerLeuSerSerSerTrpAspTyrArgMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" 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"http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "ENST00000351677.7:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000340944.3:p.Gln331Ter", "hgvsWellDefined": "ENSP00000340944.3:p.Gln331_Arg593delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748469", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000351677.7:c.991C>T" }, "RefSeq": { "hgvs": "NM_002834.5:c.991C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340944.3:p.Gln331Ter" }, "RefSeq": { "hgvs": "NP_002825.3:p.Gln331Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1189, "referenceAllele": "C", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "ENST00000351677.6:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000340944.2:p.Gln331Ter", "hgvsWellDefined": 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], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "XM_011538613.1:c.988C>T" ], "proteinEffect": { "hgvs": "XP_011536915.1:p.Gln330Ter", "hgvsWellDefined": "XP_011536915.1:p.Gln330_Arg596delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105568" }, { "@id": "http://reg.genome.network/allele/PA2827313206", "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_001330437.1:c.991C>T" ], "proteinEffect": { "hgvs": "NP_001317366.1:p.Gln331Ter", "hgvsWellDefined": "NP_001317366.1:p.Gln331_Arg597delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516816" }, { "@id": "http://reg.genome.network/allele/PA2829385063", "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_002834.4:c.991C>T" ], "proteinEffect": { "hgvs": "NP_002825.3:p.Gln331Ter", "hgvsWellDefined": "NP_002825.3:p.Gln331_Arg593delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525035" }, { "@id": "http://reg.genome.network/allele/PA2573098158", "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_080601.2:c.991C>T" ], "proteinEffect": { "hgvs": "NP_542168.1:p.Gln331Ter", "hgvsWellDefined": "NP_542168.1:p.Gln331_Arg460delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526444" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "XM_011538613.2:c.988C>T" ], "proteinEffect": { "hgvs": "XP_011536915.1:p.Gln330Ter", "hgvsWellDefined": "XP_011536915.1:p.Gln330_Arg596delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553332" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "C", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "XM_017019722.1:c.988C>T" ], "proteinEffect": { "hgvs": "XP_016875211.1:p.Gln330Ter", "hgvsWellDefined": "XP_016875211.1:p.Gln330_Arg592delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571329" }, { "@id": "http://reg.genome.network/allele/PA2827313206", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_001330437.2:c.991C>T" ], "proteinEffect": { "hgvs": "NP_001317366.1:p.Gln331Ter", "hgvsWellDefined": "NP_001317366.1:p.Gln331_Arg597delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686940" }, { "@id": "http://reg.genome.network/allele/PA2828530652", "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_001374625.1:c.988C>T" ], "proteinEffect": { "hgvs": "NP_001361554.1:p.Gln330Ter", "hgvsWellDefined": "NP_001361554.1:p.Gln330_Arg592delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693332" }, { "@id": "http://reg.genome.network/allele/PA2829385063", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_002834.5:c.991C>T" ], "proteinEffect": { "hgvs": "NP_002825.3:p.Gln331Ter", "hgvsWellDefined": "NP_002825.3:p.Gln331_Arg593delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695648", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000351677.7:c.991C>T" }, "RefSeq": { "hgvs": "NM_002834.5:c.991C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340944.3:p.Gln331Ter" }, "RefSeq": { "hgvs": "NP_002825.3:p.Gln331Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573098158", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN009644", "geneNCBI_id": 5781, "geneSymbol": "PTPN11", "hgvs": [ "NM_080601.3:c.991C>T" ], "proteinEffect": { "hgvs": "NP_542168.1:p.Gln331Ter", "hgvsWellDefined": "NP_542168.1:p.Gln331_Arg460delinsGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699517" } ], "type": "nucleotide" }