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], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724546.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006724609.1:p.Arg243Ter", "hgvsWellDefined": "XP_006724609.1:p.Arg243_Gly461delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075575" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724547.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_006724610.1:p.Arg172Ter", "hgvsWellDefined": "XP_006724610.1:p.Arg172_Gly390delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075576" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_011543948.1:c.481C>T" ], "proteinEffect": { "hgvs": "XP_011542250.1:p.Arg161Ter", "hgvsWellDefined": "XP_011542250.1:p.Arg161_Gly379delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110861" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_024452425.1:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_024308193.1:p.Arg356Ter", "hgvsWellDefined": "XP_024308193.1:p.Arg356_Pro609delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpTrpGlyGlyLeuGlyThrProSerProThrGlyCysCysLeuGluGluLeuGlnGlyGlyGlyArgValLeuProGlyGluGlyThrAlaLysThrGluValTrpArgSerAspGluLeuArgSerGlnMetAspLeuHisIleSerSerAlaProArgAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuValArgValGlnProGlyGlnProCysAlaGlnHisSerLeuSerLysMetPheLeuLeuSerLeuSerCysMetCysLeuArgValProThrPhePhePheTrpCysLeuSerHisProHisAsnLeuSerSerIleArgTrpHisProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585918" }, { "@id": "http://reg.genome.network/allele/PA2826602201", "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.2:c.481C>T" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Arg161Ter", "hgvsWellDefined": "NP_001269096.1:p.Arg161_Gly379delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681711" }, { "@id": "http://reg.genome.network/allele/PA2830016985", "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.4:c.694C>T" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Arg232Ter", "hgvsWellDefined": "NP_073736.2:p.Arg232_Gly450delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698594" }, { "@id": "http://reg.genome.network/allele/PA2830481580", "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.3:c.712C>T" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Arg238Ter", "hgvsWellDefined": "NP_982299.1:p.Arg238_Gly456delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701650" }, { "@id": "http://reg.genome.network/allele/PA2580564492", "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.3:c.727C>T" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Arg243Ter", "hgvsWellDefined": "NP_982301.1:p.Arg243_Gly461delinsAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701651", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.727C>T" }, "RefSeq": { "hgvs": "NM_203475.3:c.727C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Arg243Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Arg243Ter" } } } } ], "type": "nucleotide" }