{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412842015", "communityStandardTitle": [ "NM_203475.3(PORCN):c.221G>A (p.Trp74Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48369767G>A?assembly=hg19", "id": "chrX:g.48369767G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48511379G>A?assembly=hg38", "id": "chrX:g.48511379G>A" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 48511379, "referenceAllele": "G", "start": 48511378 } ], "hgvs": [ "NC_000023.11:g.48511379G>A", "CM000685.2:g.48511379G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 48369767, "referenceAllele": "G", "start": 48369766 } ], "hgvs": [ "NC_000023.10:g.48369767G>A", "CM000685.1:g.48369767G>A" ], "referenceGenome": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS825889" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000682661.1:n.380G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827650" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000683923.1:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000506737.1:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746744", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.221G>A" }, "RefSeq": { "hgvs": "NM_203475.3:c.221G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Trp74Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.7:c.150G>A" ], "proteinEffect": { "hgvs": "ENSP00000420445.3:p.Leu50=" }, "referenceSequence": "http://reg.genome.network/refseq/RS757498" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000326194.10:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000322304.6:p.Trp74Ter", "hgvsWellDefined": "ENSP00000322304.6:p.Trp74_Gly461delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258582" }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "G", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355092.4:c.86G>A" ], "proteinEffect": { "hgvs": "ENSP00000347207.4:p.Trp29Ter", "hgvsWellDefined": "ENSP00000347207.4:p.Trp29_Gly405delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263331" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355961.8:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000348233.4:p.Trp74Ter", "hgvsWellDefined": "ENSP00000348233.4:p.Trp74_Gly456delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263602" }, { "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000359882.8:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000352946.4:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264938" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000361988.7:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000354978.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000354978.3:p.Trp74_Gly450delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265742" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000367574.8:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000356546.5:p.Trp74Ter", "hgvsWellDefined": "ENSP00000356546.5:p.Trp74_Gly455delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266464" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000470275.2:c.150G>A" ], "proteinEffect": { "hgvs": "ENSP00000418644.2:p.Leu50=" }, "referenceSequence": "http://reg.genome.network/refseq/RS312752" }, { "coordinates": [ { "allele": "A", "end": 285, "endIntronDirection": "-", "endIntronOffset": 512, "referenceAllele": "G", "start": 285, "startIntronDirection": "-", "startIntronOffset": 513 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000472520.5:c.137-513G>A" ], "proteinEffect": { "hgvs": "ENSP00000419858.1:n.137-513G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS314468" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.6:c.342G>A" ], "proteinEffect": { "hgvs": "ENSP00000420445.2:p.Leu114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS324351" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000489940.5:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000419212.1:p.Trp74Ter", "hgvsWellDefined": "ENSP00000419212.1:p.Trp74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS327891" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000491243.5:n.260G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328888" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000528612.5:c.150G>A" ], "proteinEffect": { "hgvs": "ENSP00000431224.1:p.Leu50=" }, "referenceSequence": "http://reg.genome.network/refseq/RS354127" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000537758.5:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000446401.2:p.Trp74Ter", "hgvsWellDefined": "ENSP00000446401.2:p.Trp74_Gly456delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360947" }, { "@id": "http://reg.genome.network/allele/PA2826602135", "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.1:c.8G>A" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Trp3Ter", "hgvsWellDefined": "NP_001269096.1:p.Trp3_Gly379delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021782" }, { "@id": "http://reg.genome.network/allele/PA2830016931", "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.3:c.221G>A" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Trp74Ter", "hgvsWellDefined": "NP_073736.2:p.Trp74_Gly450delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037472" }, { "@id": "http://reg.genome.network/allele/PA255496", "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.2:c.221G>A" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Trp74Ter", "hgvsWellDefined": "NP_982299.1:p.Trp74_Gly456delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045227" }, { "@id": "http://reg.genome.network/allele/PA2830481708", "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203474.1:c.221G>A" ], "proteinEffect": { "hgvs": "NP_982300.1:p.Trp74Ter", "hgvsWellDefined": "NP_982300.1:p.Trp74_Gly455delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045228" }, { "@id": "http://reg.genome.network/allele/PA916070352", "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.2:c.221G>A" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Trp74Ter", "hgvsWellDefined": "NP_982301.1:p.Trp74_Gly461delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045229" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272635.1:c.560G>A" ], "proteinEffect": { "hgvs": "XP_005272692.1:p.Trp187Ter", "hgvsWellDefined": "XP_005272692.1:p.Trp187_Gly569delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067317" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272636.1:c.560G>A" ], "proteinEffect": { "hgvs": "XP_005272693.1:p.Trp187Ter", "hgvsWellDefined": "XP_005272693.1:p.Trp187_Gly563delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067318" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272637.1:c.473G>A" ], "proteinEffect": { "hgvs": "XP_005272694.1:p.Trp158Ter", "hgvsWellDefined": "XP_005272694.1:p.Trp158_Gly545delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067319" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724544.2:c.326G>A" ], "proteinEffect": { "hgvs": "XP_006724607.1:p.Trp109Ter", "hgvsWellDefined": "XP_006724607.1:p.Trp109_Gly496delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075573" }, { "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "G", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724545.2:c.272G>A" ], "proteinEffect": { "hgvs": "XP_006724608.1:p.Trp91Ter", "hgvsWellDefined": "XP_006724608.1:p.Trp91_Gly478delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075574" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724546.2:c.221G>A" ], "proteinEffect": { "hgvs": "XP_006724609.1:p.Trp74Ter", "hgvsWellDefined": "XP_006724609.1:p.Trp74_Gly461delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075575" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724547.1:c.8G>A" ], "proteinEffect": { "hgvs": "XP_006724610.1:p.Trp3Ter", "hgvsWellDefined": "XP_006724610.1:p.Trp3_Gly390delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075576" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_011543948.1:c.8G>A" ], "proteinEffect": { "hgvs": "XP_011542250.1:p.Trp3Ter", "hgvsWellDefined": "XP_011542250.1:p.Trp3_Gly379delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110861" }, { "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "G", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_024452425.1:c.560G>A" ], "proteinEffect": { "hgvs": "XP_024308193.1:p.Trp187Ter", "hgvsWellDefined": "XP_024308193.1:p.Trp187_Pro609delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpTrpGlyGlyLeuGlyThrProSerProThrGlyCysCysLeuGluGluLeuGlnGlyGlyGlyArgValLeuProGlyGluGlyThrAlaLysThrGluValTrpArgSerAspGluLeuArgSerGlnMetAspLeuHisIleSerSerAlaProArgAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuValArgValGlnProGlyGlnProCysAlaGlnHisSerLeuSerLysMetPheLeuLeuSerLeuSerCysMetCysLeuArgValProThrPhePhePheTrpCysLeuSerHisProHisAsnLeuSerSerIleArgTrpHisProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585918" }, { "@id": "http://reg.genome.network/allele/PA2826602135", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.2:c.8G>A" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Trp3Ter", "hgvsWellDefined": "NP_001269096.1:p.Trp3_Gly379delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681711" }, { "@id": "http://reg.genome.network/allele/PA2830016931", "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.4:c.221G>A" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Trp74Ter", "hgvsWellDefined": "NP_073736.2:p.Trp74_Gly450delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698594" }, { "@id": "http://reg.genome.network/allele/PA255496", "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.3:c.221G>A" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Trp74Ter", "hgvsWellDefined": "NP_982299.1:p.Trp74_Gly456delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701650" }, { "@id": "http://reg.genome.network/allele/PA916070352", "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.3:c.221G>A" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Trp74Ter", "hgvsWellDefined": "NP_982301.1:p.Trp74_Gly461delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701651", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.221G>A" }, "RefSeq": { "hgvs": "NM_203475.3:c.221G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Trp74Ter" } } } } ], "type": "nucleotide" }