{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374113125", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1460785[alleleid]", "alleleId": 1460785, "preferredName": "NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1385636", "RCV": [ "RCV001888912" ], "variationId": 1385636 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98222003G>T?assembly=hg19", "id": "chr9:g.98222003G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95459721G>T?assembly=hg38", "id": "chr9:g.95459721G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554691698", "rs": 1554691698 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95459721, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2766C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2766C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Tyr922Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Tyr922Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3066, "referenceAllele": "C", "start": 3065 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2766C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Tyr922Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2763C>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Tyr921Ter", "hgvsWellDefined": 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"ENSP00000396135.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2672, "referenceAllele": "C", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2313C>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Tyr771Ter", "hgvsWellDefined": "ENSP00000399981.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2313C>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Tyr771Ter", "hgvsWellDefined": "ENSP00000414823.2:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 3154, "referenceAllele": "C", "start": 3153 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2568C>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Tyr856Ter", "hgvsWellDefined": "ENSP00000410287.2:p.Tyr856_Asn1381delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 3062, "referenceAllele": "C", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2568C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Tyr856Ter", "hgvsWellDefined": "ENSP00000389744.1:p.Tyr856_Asn1381delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 116, "referenceAllele": "C", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547615.1:n.116C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS366385" }, { "@id": "http://reg.genome.network/allele/PA2573166005", "coordinates": [ { "allele": "A", "end": 2954, "referenceAllele": "C", "start": 2953 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2766C>A", "LRG_515t1:c.2766C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr922Ter", "hgvsWellDefined": "NP_000255.2:p.Tyr922_Asn1447delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489661", "coordinates": [ { "allele": "A", "end": 3062, "referenceAllele": "C", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2568C>A", "LRG_515t2:c.2568C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr856Ter", "hgvsWellDefined": "NP_001077071.1:p.Tyr856_Asn1381delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825496147", "coordinates": [ { "allele": "A", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2763C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr921Ter", "hgvsWellDefined": "NP_001077072.1:p.Tyr921_Asn1446delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503299", "coordinates": [ { "allele": "A", "end": 2672, "referenceAllele": "C", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077073.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507406", "coordinates": [ { "allele": "A", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077074.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510402", "coordinates": [ { "allele": "A", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077075.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513270", "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "C", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077076.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2313C>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Tyr771Ter", "hgvsWellDefined": "XP_005252159.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 2810, "referenceAllele": "C", "start": 2809 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2610C>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Tyr870Ter", "hgvsWellDefined": "XP_011517170.1:p.Tyr870_Asn1395delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2461, "referenceAllele": "C", "start": 2460 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2313C>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Tyr771Ter", "hgvsWellDefined": "XP_011517171.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2449, "referenceAllele": "C", "start": 2448 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2313C>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Tyr771Ter", "hgvsWellDefined": "XP_011517172.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2436, "referenceAllele": "C", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2313C>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Tyr771Ter", "hgvsWellDefined": "XP_011517173.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2419, "referenceAllele": "C", "start": 2418 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2313C>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Tyr771Ter", "hgvsWellDefined": "XP_011517174.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "C", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1926C>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Tyr642Ter", "hgvsWellDefined": "XP_011517175.1:p.Tyr642_Asn1167delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 2966, "referenceAllele": "C", "start": 2965 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2766C>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Tyr922Ter", "hgvsWellDefined": "XP_011517176.1:p.Tyr922_Ala1156delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2573166005", "coordinates": [ { "allele": "A", "end": 2954, "referenceAllele": "C", "start": 2953 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2766C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr922Ter", "hgvsWellDefined": "NP_000255.2:p.Tyr922_Asn1447delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489661", "coordinates": [ { "allele": "A", "end": 3154, "referenceAllele": "C", "start": 3153 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2568C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr856Ter", "hgvsWellDefined": "NP_001077071.1:p.Tyr856_Asn1381delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825496147", "coordinates": [ { "allele": "A", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2763C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr921Ter", "hgvsWellDefined": "NP_001077072.1:p.Tyr921_Asn1446delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503299", "coordinates": [ { "allele": "A", "end": 2672, "referenceAllele": "C", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077073.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507406", "coordinates": [ { "allele": "A", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077074.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510402", "coordinates": [ { "allele": "A", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077075.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513270", "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "C", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077076.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033782", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "C", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2610C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Tyr870Ter", "hgvsWellDefined": "NP_001341847.1:p.Tyr870_Asn1395delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 2788, "referenceAllele": "C", "start": 2787 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2788C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2573166005", "coordinates": [ { "allele": "A", "end": 3671, "referenceAllele": "C", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2766C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr922Ter", "hgvsWellDefined": "NP_000255.2:p.Tyr922_Asn1447delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2766C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2766C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Tyr922Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Tyr922Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510402", "coordinates": [ { "allele": "A", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077075.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033782", "coordinates": [ { "allele": "A", "end": 3515, "referenceAllele": "C", "start": 3514 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2610C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Tyr870Ter", "hgvsWellDefined": "NP_001341847.1:p.Tyr870_Asn1395delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3505, "referenceAllele": "C", "start": 3504 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3505C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489661", "coordinates": [ { "allele": "A", "end": 3068, "referenceAllele": "C", "start": 3067 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2568C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr856Ter", "hgvsWellDefined": "NP_001077071.1:p.Tyr856_Asn1381delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825496147", "coordinates": [ { "allele": "A", "end": 2914, "referenceAllele": "C", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2763C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr921Ter", "hgvsWellDefined": "NP_001077072.1:p.Tyr921_Asn1446delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2763C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2763C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Tyr921Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Tyr921Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503299", "coordinates": [ { "allele": "A", "end": 2672, "referenceAllele": "C", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077073.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507406", "coordinates": [ { "allele": "A", "end": 2655, "referenceAllele": "C", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077074.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513270", "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "C", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2313C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr771Ter", "hgvsWellDefined": "NP_001077076.1:p.Tyr771_Asn1296delinsLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }