{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3899825", "communityStandardTitle": [ "NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514544[alleleid]", "alleleId": 514544, "preferredName": "NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523846", "RCV": [ "RCV000627319", "RCV000656346" ], "variationId": 523846 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-79680593-G-A", "id": "6-79680593-G-A", "variant": "6:79680593 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.79680593G>A?assembly=hg19", "id": "chr6:g.79680593G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.78970876G>A?assembly=hg38", "id": "chr6:g.78970876G>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910969" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000700172.1:n.332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911021" }, { "coordinates": [ { "allele": "T", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000275034.5:c.2902C>T" ], "proteinEffect": { "hgvs": "ENSP00000275034.3:p.Arg968Ter", "hgvsWellDefined": "ENSP00000275034.3:p.Arg968_Trp1821delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743383", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275034.5:c.2902C>T" }, "RefSeq": { "hgvs": "NM_017934.7:c.2902C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275034.3:p.Arg968Ter" }, "RefSeq": { "hgvs": "NP_060404.4:p.Arg968Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3070, "referenceAllele": "C", "start": 3069 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000275034.4:c.2902C>T" ], "proteinEffect": { "hgvs": "ENSP00000275034.3:p.Arg968Ter", "hgvsWellDefined": "ENSP00000275034.3:p.Arg968_Trp1821delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252594" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "ENST00000479165.1:n.191C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319609" }, { "coordinates": [ { "allele": "T", "end": 3128, "referenceAllele": "C", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "NM_017934.5:c.2902C>T" ], "proteinEffect": { "hgvs": "NP_060404.3:p.Arg968Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS035320" }, { "coordinates": [ { "allele": "T", "end": 3125, "referenceAllele": "C", "start": 3124 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_005248729.3:c.2899C>T" ], "proteinEffect": { "hgvs": "XP_005248786.1:p.Arg967Ter", "hgvsWellDefined": "XP_005248786.1:p.Arg967_Trp1820delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058565" }, { "coordinates": [ { "allele": "T", "end": 3128, "referenceAllele": "C", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535917.1:c.2902C>T" ], "proteinEffect": { "hgvs": "XP_011534219.1:p.Arg968Ter", "hgvsWellDefined": "XP_011534219.1:p.Arg968_Trp1770delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102919" }, { "coordinates": [ { "allele": "T", "end": 2803, "referenceAllele": "C", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535918.1:c.2386C>T" ], "proteinEffect": { "hgvs": "XP_011534220.1:p.Arg796Ter", "hgvsWellDefined": "XP_011534220.1:p.Arg796_Trp1649delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102920" }, { "coordinates": [ { "allele": "T", "end": 3128, "referenceAllele": "C", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535919.1:c.2902C>T" ], "proteinEffect": { "hgvs": "XP_011534221.1:p.Arg968Ter", "hgvsWellDefined": "XP_011534221.1:p.Arg968_Pro1001delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102921" }, { "coordinates": [ { "allele": "T", "end": 3128, "referenceAllele": "C", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XR_942499.1:n.3128C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136777" }, { "@id": "http://reg.genome.network/allele/PA891863305", "coordinates": [ { "allele": "T", "end": 3132, "referenceAllele": "C", "start": 3131 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "NM_017934.6:c.2902C>T" ], "proteinEffect": { "hgvs": "NP_060404.4:p.Arg968Ter", "hgvsWellDefined": "NP_060404.4:p.Arg968_Trp1821delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525841" }, { "coordinates": [ { "allele": "T", "end": 3125, "referenceAllele": "C", "start": 3124 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_005248729.5:c.2899C>T" ], "proteinEffect": { "hgvs": "XP_005248786.1:p.Arg967Ter", "hgvsWellDefined": "XP_005248786.1:p.Arg967_Trp1820delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533149" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "C", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_011535918.3:c.2386C>T" ], "proteinEffect": { "hgvs": "XP_011534220.1:p.Arg796Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552231" }, { "coordinates": [ { "allele": "T", "end": 3180, "referenceAllele": "C", "start": 3179 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_017010989.2:c.1237C>T" ], "proteinEffect": { "hgvs": "XP_016866478.1:p.Arg413Ter", "hgvsWellDefined": "XP_016866478.1:p.Arg413_Trp1266delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564935" }, { "coordinates": [ { "allele": "T", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "XM_017010990.2:c.1237C>T" ], "proteinEffect": { "hgvs": "XP_016866479.1:p.Arg413Ter", "hgvsWellDefined": "XP_016866479.1:p.Arg413_Trp1266delinsGlnGlyHisGluAlaTyrValGluMetAlaArgLysAsnLysIleTyrSerIleAsnProLysLysGlnProTrpHisLysMetGluLeuArgGluGlnGluLeuMetLysIleValGlyIleLysTyrGluValGlyLeuProThrLeuCysCysLeuLysLeuAlaPheLeuAspProAspThrGlyLysLeuThrGlyGlySerPheThrMetLysTyrHisAspMetProAspValIleAspPheLeuValLeuArgGlnGlnPheAspAspAlaLysTyrArgArgTrpAsnIleGlyAspArgPheArgSerValIleAspAspAlaTrpTrpPheGlyThrIleGluSerGlnGluProLeuGlnLeuGluTyrProAspSerLeuPheGlnCysTyrAsnValCysTrpAspAsnGlyAspThrGluLysMetSerProTrpAspMetGluLeuIleProAsnAsnAlaValPheProGluGluLeuGlyThrSerValProLeuThrAspGlyGluCysArgSerLeuIleTyrLysProLeuAspGlyGluTrpGlyThrAsnProArgAspGluGluCysGluArgIleValAlaGlyIleAsnGlnLeuMetThrLeuAspIleAlaSerAlaPheValAlaProValAspLeuGlnAlaTyrProMetTyrCysThrValValAlaTyrProThrAspLeuSerThrIleLysGlnArgLeuGluAsnArgPheTyrArgArgValSerSerLeuMetTrpGluValArgTyrIleGluHisAsnThrArgThrPheAsnGluProGlySerProIleValLysSerAlaLysPheValThrAspLeuLeuLeuHisPheIleLysAspGlnThrCysTyrAsnIleIleProLeuTyrAsnSerMetLysLysLysValLeuSerAspSerGluAspGluGluLysAspAlaAspValProGlyThrSerThrArgLysArgLysAspHisGlnProArgArgArgLeuArgAsnArgAlaGlnSerTyrAspIleGlnAlaTrpLysLysGlnCysGluGluLeuLeuAsnLeuIlePheGlnCysGluAspSerGluProPheArgGlnProValAspLeuLeuGluTyrProAspTyrArgAspIleIleAspThrProMetAspPheAlaThrValArgGluThrLeuGluAlaGlyAsnTyrGluSerProMetGluLeuCysLysAspValArgLeuIlePheSerAsnSerLysAlaTyrThrProSerLysArgSerArgIleTyrSerMetSerLeuArgLeuSerAlaPhePheGluGluHisIleSerSerValLeuSerAspTyrLysSerAlaLeuArgPheHisLysArgAsnThrIleThrLysArgArgLysLysArgAsnArgSerSerSerValSerSerSerAlaAlaSerSerProGluArgLysLysArgIleLeuLysProGlnLeuLysSerGluSerSerThrSerAlaPheSerThrProThrArgSerIleProProArgHisAsnAlaAlaGlnIleAsnGlyLysThrGluSerSerSerValValArgThrArgSerAsnArgValValValAspProValValThrGluGlnProSerThrSerSerAlaAlaLysThrPheIleThrLysAlaAsnAlaSerAlaIleProGlyLysThrIleLeuGluAsnSerValLysHisSerLysAlaLeuAsnThrLeuSerSerProGlyGlnSerSerPheSerHisGlyThrArgAsnAsnSerAlaLysGluAsnMetGluLysGluLysProValLysArgLysMetLysSerSerValLeuProLysAlaSerThrLeuSerLysSerSerAlaValIleGluGlnGlyAspCysLysAsnAsnAlaLeuValProGlyThrIleGlnValAsnGlyHisGlyGlyGlnProSerLysLeuValLysArgGlyProGlyArgLysProLysValGluValAsnThrAsnSerGlyGluIleIleHisLysLysArgGlyArgLysProLysLysLeuGlnTyrAlaLysProGluAspLeuGluGlnAsnAsnValHisProIleArgAspGluValLeuProSerSerThrCysAsnPheLeuSerGluThrAsnAsnValLysGluAspLeuLeuGlnLysLysAsnArgGlyGlyArgLysProLysArgLysMetLysThrGlnLysLeuAspAlaAspLeuLeuValProAlaSerValLysValLeuArgArgSerAsnArgLysLysIleAspAspProIleAspGluGluGluGluPheGluGluLeuLysGlySerGluProHisMetArgThrArgAsnGlnGlyArgArgThrAlaPheTyrAsnGluAspAspSerGluGluGluGlnArgGlnLeuLeuPheGluAspThrSerLeuThrPheGlyThrSerSerArgGlyArgValArgLysLeuThrGluLysAlaLysAlaAsnLeuIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564936" }, { "coordinates": [ { "allele": "A", "end": 817, "endIntronDirection": "-", "endIntronOffset": 8256, "referenceAllele": "G", "start": 817, "startIntronDirection": "-", "startIntronOffset": 8257 } ], "gene": "http://reg.genome.network/gene/GN017368", "geneNCBI_id": 134728, "geneSymbol": "IRAK1BP1", "hgvs": [ "XR_001743162.1:n.818-8257G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592570" }, { "@id": "http://reg.genome.network/allele/PA891863305", "coordinates": [ { "allele": "T", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN015673", "geneNCBI_id": 55023, "geneSymbol": "PHIP", "hgvs": [ "NM_017934.7:c.2902C>T" ], "proteinEffect": { "hgvs": "NP_060404.4:p.Arg968Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS669437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275034.5:c.2902C>T" }, "RefSeq": { "hgvs": "NM_017934.7:c.2902C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275034.3:p.Arg968Ter" }, "RefSeq": { "hgvs": "NP_060404.4:p.Arg968Ter" } } } } ], "type": "nucleotide" }