{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412842186", "communityStandardTitle": [ "NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5367004", "active": true, "id": "COSM5367004" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244003[alleleid]", "alleleId": 244003, "preferredName": "NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242872", "RCV": [ "RCV000491111", "RCV002436050" ], "variationId": 242872 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48369814C>T?assembly=hg19", "id": "chrX:g.48369814C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48511426C>T?assembly=hg38", "id": "chrX:g.48511426C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1114167283", "rs": 1114167283 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-48511426-C-T?dataset=gnomad_r4", "id": "X-48511426-C-T", "variant": "X:48511426 C / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 48511426, "referenceAllele": "C", "start": 48511425 } ], "hgvs": [ "NC_000023.11:g.48511426C>T", "CM000685.2:g.48511426C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 48369814, "referenceAllele": "C", "start": 48369813 } ], "hgvs": [ "NC_000023.10:g.48369814C>T", "CM000685.1:g.48369814C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 48254758, "referenceAllele": "C", "start": 48254757 } ], "hgvs": [ "NC_000023.9:g.48254758C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 7444, "referenceAllele": "C", "start": 7443 } ], "hgvs": [ "NG_009278.1:g.7444C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001538" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000367574.9:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000356546.6:p.Arg90Ter", "hgvsWellDefined": "ENSP00000356546.6:p.Arg90_Gly450delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824190" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000537758.6:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000446401.3:p.Arg90Ter", "hgvsWellDefined": "ENSP00000446401.3:p.Arg90_Gly450delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825889" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000682661.1:n.427C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827650" }, { "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000683923.1:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000506737.1:p.Arg90Ter", "hgvsWellDefined": "ENSP00000506737.1:p.Arg90_Gly450delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828889" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000684722.1:n.450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829673" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000326194.11:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000322304.6:p.Arg90Ter", "hgvsWellDefined": "ENSP00000322304.6:p.Arg90_Gly461delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746744", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.268C>T" }, "RefSeq": { "hgvs": "NM_203475.3:c.268C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Arg90Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Arg90Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.7:c.197C>T" ], "proteinEffect": { "hgvs": "ENSP00000420445.3:p.Pro66Leu", "hgvsWellDefined": "ENSP00000420445.3:p.Pro66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS757498" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000326194.10:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000322304.6:p.Arg90Ter", "hgvsWellDefined": "ENSP00000322304.6:p.Arg90_Gly461delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258582" }, { "coordinates": [ { "allele": "T", "end": 133, "referenceAllele": "C", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355092.4:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000347207.4:p.Arg45Ter", "hgvsWellDefined": "ENSP00000347207.4:p.Arg45_Gly405delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263331" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000355961.8:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000348233.4:p.Arg90Ter", "hgvsWellDefined": "ENSP00000348233.4:p.Arg90_Gly456delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263602" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000359882.8:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000352946.4:p.Arg90Ter", "hgvsWellDefined": "ENSP00000352946.4:p.Arg90_Gly455delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264938" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000361988.7:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000354978.3:p.Arg90Ter", "hgvsWellDefined": "ENSP00000354978.3:p.Arg90_Gly450delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265742" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000367574.8:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000356546.5:p.Arg90Ter", "hgvsWellDefined": "ENSP00000356546.5:p.Arg90_Gly455delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266464" }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000470275.2:c.197C>T" ], "proteinEffect": { "hgvs": "ENSP00000418644.2:p.Pro66Leu", "hgvsWellDefined": "ENSP00000418644.2:p.Pro66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS312752" }, { "coordinates": [ { "allele": "T", "end": 285, "endIntronDirection": "-", "endIntronOffset": 465, "referenceAllele": "C", "start": 285, "startIntronDirection": "-", "startIntronOffset": 466 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000472520.5:c.137-466C>T" ], "proteinEffect": { "hgvs": "ENSP00000419858.1:n.137-466C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS314468" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000485288.6:c.389C>T" ], "proteinEffect": { "hgvs": "ENSP00000420445.2:p.Pro130Leu", "hgvsWellDefined": "ENSP00000420445.2:p.Pro130Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS324351" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000489940.5:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000419212.1:p.Arg90Ter", "hgvsWellDefined": "ENSP00000419212.1:p.Arg90Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS327891" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000491243.5:n.307C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328888" }, { "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000528612.5:c.197C>T" ], "proteinEffect": { "hgvs": "ENSP00000431224.1:p.Pro66Leu", "hgvsWellDefined": "ENSP00000431224.1:p.Pro66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS354127" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "ENST00000537758.5:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000446401.2:p.Arg90Ter", "hgvsWellDefined": "ENSP00000446401.2:p.Arg90_Gly456delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360947" }, { "@id": "http://reg.genome.network/allele/PA2826602138", "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.1:c.55C>T" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Arg19Ter", "hgvsWellDefined": "NP_001269096.1:p.Arg19_Gly379delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021782" }, { "@id": "http://reg.genome.network/allele/PA2830016933", "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.3:c.268C>T" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Arg90Ter", "hgvsWellDefined": "NP_073736.2:p.Arg90_Gly450delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037472" }, { "@id": "http://reg.genome.network/allele/PA2830481524", "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Arg90Ter", "hgvsWellDefined": "NP_982299.1:p.Arg90_Gly456delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045227" }, { "@id": "http://reg.genome.network/allele/PA645496195", "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203474.1:c.268C>T" ], "proteinEffect": { "hgvs": "NP_982300.1:p.Arg90Ter", "hgvsWellDefined": "NP_982300.1:p.Arg90_Gly455delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045228" }, { "@id": "http://reg.genome.network/allele/PA916070355", "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Arg90Ter", "hgvsWellDefined": "NP_982301.1:p.Arg90_Gly461delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045229" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272635.1:c.607C>T" ], "proteinEffect": { "hgvs": "XP_005272692.1:p.Arg203Ter", "hgvsWellDefined": "XP_005272692.1:p.Arg203_Gly569delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067317" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272636.1:c.607C>T" ], "proteinEffect": { "hgvs": "XP_005272693.1:p.Arg203Ter", "hgvsWellDefined": "XP_005272693.1:p.Arg203_Gly563delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067318" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_005272637.1:c.520C>T" ], "proteinEffect": { "hgvs": "XP_005272694.1:p.Arg174Ter", "hgvsWellDefined": "XP_005272694.1:p.Arg174_Gly545delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067319" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724544.2:c.373C>T" ], "proteinEffect": { "hgvs": "XP_006724607.1:p.Arg125Ter", "hgvsWellDefined": "XP_006724607.1:p.Arg125_Gly496delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075573" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724545.2:c.319C>T" ], "proteinEffect": { "hgvs": "XP_006724608.1:p.Arg107Ter", "hgvsWellDefined": "XP_006724608.1:p.Arg107_Gly478delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075574" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724546.2:c.268C>T" ], "proteinEffect": { "hgvs": "XP_006724609.1:p.Arg90Ter", "hgvsWellDefined": "XP_006724609.1:p.Arg90_Gly461delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075575" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_006724547.1:c.55C>T" ], "proteinEffect": { "hgvs": "XP_006724610.1:p.Arg19Ter", "hgvsWellDefined": "XP_006724610.1:p.Arg19_Gly390delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075576" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_011543948.1:c.55C>T" ], "proteinEffect": { "hgvs": "XP_011542250.1:p.Arg19Ter", "hgvsWellDefined": "XP_011542250.1:p.Arg19_Gly379delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110861" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "XM_024452425.1:c.607C>T" ], "proteinEffect": { "hgvs": "XP_024308193.1:p.Arg203Ter", "hgvsWellDefined": "XP_024308193.1:p.Arg203_Pro609delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpTrpGlyGlyLeuGlyThrProSerProThrGlyCysCysLeuGluGluLeuGlnGlyGlyGlyArgValLeuProGlyGluGlyThrAlaLysThrGluValTrpArgSerAspGluLeuArgSerGlnMetAspLeuHisIleSerSerAlaProArgAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuValArgValGlnProGlyGlnProCysAlaGlnHisSerLeuSerLysMetPheLeuLeuSerLeuSerCysMetCysLeuArgValProThrPhePhePheTrpCysLeuSerHisProHisAsnLeuSerSerIleArgTrpHisProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585918" }, { "@id": "http://reg.genome.network/allele/PA2826602138", "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_001282167.2:c.55C>T" ], "proteinEffect": { "hgvs": "NP_001269096.1:p.Arg19Ter", "hgvsWellDefined": "NP_001269096.1:p.Arg19_Gly379delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681711" }, { "@id": "http://reg.genome.network/allele/PA2830016933", "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_022825.4:c.268C>T" ], "proteinEffect": { "hgvs": "NP_073736.2:p.Arg90Ter", "hgvsWellDefined": "NP_073736.2:p.Arg90_Gly450delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698594" }, { "@id": "http://reg.genome.network/allele/PA2830481524", "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203473.3:c.268C>T" ], "proteinEffect": { "hgvs": "NP_982299.1:p.Arg90Ter", "hgvsWellDefined": "NP_982299.1:p.Arg90_Gly456delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701650" }, { "@id": "http://reg.genome.network/allele/PA916070355", "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017652", "geneNCBI_id": 64840, "geneSymbol": "PORCN", "hgvs": [ "NM_203475.3:c.268C>T" ], "proteinEffect": { "hgvs": "NP_982301.1:p.Arg90Ter", "hgvsWellDefined": "NP_982301.1:p.Arg90_Gly461delinsHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701651", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326194.11:c.268C>T" }, "RefSeq": { "hgvs": "NM_203475.3:c.268C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322304.6:p.Arg90Ter" }, "RefSeq": { "hgvs": "NP_982301.1:p.Arg90Ter" } } } } ], "type": "nucleotide" }