{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA255495", "communityStandardTitle": [ "NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25742[alleleid]", "alleleId": 25742, "preferredName": "NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10703", "RCV": [ "RCV000011449", "RCV003234900" ], "variationId": 10703 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48369768G>A?assembly=hg19", "id": "chrX:g.48369768G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48511380G>A?assembly=hg38", "id": "chrX:g.48511380G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852219", "rs": 137852219 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 48511380, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746744", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.222G>A" }, "RefSeq": { "hgvs": "NM_203475.3:c.222G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Trp74Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.7:c.151G>A" ], "proteinEffect": { "hgvs": "ENSP00000420445.3:p.Gly51Ser", "hgvsWellDefined": "ENSP00000420445.3:p.Gly51Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS757498" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "G", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000326194.10:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000322304.6:p.Trp74Ter", "hgvsWellDefined": "ENSP00000322304.6:p.Trp74_Gly461delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258582" }, { "coordinates": [ { "allele": "A", "end": 87, "referenceAllele": "G", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355092.4:c.87G>A" ], "proteinEffect": { "hgvs": "ENSP00000347207.4:p.Trp29Ter", "hgvsWellDefined": "ENSP00000347207.4:p.Trp29_Gly405delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263331" }, { "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355961.8:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000348233.4:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263602" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000359882.8:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000352946.4:p.Trp74Ter", "hgvsWellDefined": 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"ENSP00000354978.3:p.Trp74_Gly450delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265742" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000367574.8:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000356546.5:p.Trp74Ter", "hgvsWellDefined": "ENSP00000356546.5:p.Trp74_Gly455delinsValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266464" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000470275.2:c.151G>A" ], "proteinEffect": { "hgvs": "ENSP00000418644.2:p.Gly51Ser", "hgvsWellDefined": "ENSP00000418644.2:p.Gly51Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS312752" }, { "coordinates": [ { "allele": "A", "end": 285, "endIntronDirection": "-", "endIntronOffset": 511, "referenceAllele": "G", "start": 285, "startIntronDirection": "-", "startIntronOffset": 512 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000472520.5:c.137-512G>A" ], "proteinEffect": { "hgvs": "ENSP00000419858.1:n.137-512G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS314468" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.6:c.343G>A" ], "proteinEffect": { "hgvs": "ENSP00000420445.2:p.Gly115Ser", "hgvsWellDefined": "ENSP00000420445.2:p.Gly115Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS324351" }, { "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000489940.5:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000419212.1:p.Trp74Ter", "hgvsWellDefined": "ENSP00000419212.1:p.Trp74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS327891" }, { "coordinates": [ { "allele": "A", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000491243.5:n.261G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328888" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000528612.5:c.151G>A" ], "proteinEffect": { "hgvs": "ENSP00000431224.1:p.Gly51Ser", "hgvsWellDefined": "ENSP00000431224.1:p.Gly51Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS354127" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000537758.5:c.222G>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": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.1:c.9G>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": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.3:c.222G>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": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.2:c.222G>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": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203474.1:c.222G>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": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.2:c.222G>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": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272635.1:c.561G>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": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272636.1:c.561G>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": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272637.1:c.474G>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": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724544.2:c.327G>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": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724545.2:c.273G>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": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724546.2:c.222G>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": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724547.1:c.9G>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": 693, "referenceAllele": "G", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_011543948.1:c.9G>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": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_024452425.1:c.561G>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": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.2:c.9G>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": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.4:c.222G>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": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.3:c.222G>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": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.3:c.222G>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.222G>A" }, "RefSeq": { "hgvs": "NM_203475.3:c.222G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Trp74Ter" } } } } ], "type": "nucleotide" }