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"XP_011522205.1:p.Arg8_Arg428delinsAspGluLeuAspTrpPheGlnArgGlyGluAspSerIleLeuAsnLysAlaAspGluAlaArgAsnArgAlaIleAlaAspTyrLeuArgSerAsnGlyTyrGluGluAlaTyrSerValPheLysLysGluAlaGluLeuAspValAsnGluGluLeuAspLysLysTyrAlaGlyLeuLeuGluLysLysTrpThrSerValIleArgLeuGlnLysLysValMetGluLeuGluSerLysLeuAsnGluAlaLysGluGluPheThrSerGlyGlyProLeuGlyGlnLysArgAspProLysGluTrpIleProArgProProGluLysTyrAlaLeuSerGlyHisArgSerProValThrArgValIlePheHisProValPheSerValMetValSerAlaSerGluAspAlaThrIleLysValTrpAspTyrGluThrGlyAspPheGluArgThrLeuLysGlyHisThrAspSerValGlnAspIleSerPheAspHisSerGlyLysLeuLeuAlaSerCysSerAlaAspMetThrIleLysLeuTrpAspPheGlnGlyPheGluCysIleArgThrMetHisGlyHisAspHisAsnValSerSerValAlaIleMetProAsnGlyAspHisIleValSerAlaSerArgAspLysThrIleLysMetTrpGluValGlnThrGlyTyrCysValLysThrPheThrGlyHisArgGluTrpValArgMetValArgProAsnGlnAspGlyThrLeuIleAlaSerCysSerAsnAspGlnThrValArgValTrpValValAlaThrLysGluCysLysAlaGluLeuArgGluHisGluHisValValGluCysIleSerTrpAlaProGluSerSerTyrSerSerIleSerGluAlaThrGlySerGluThrLysLysSerGlyLysProGlyProPheLeuLeuSerGlySerArgAspLysThrIleLysMetTrpAspValSerThrGlyMetCysLeuMetThrLeuValGlyHisAspAsnTrpValArgGlyValLeuPheHisSerGlyGlyLysPheIleLeuSerCysAlaAspAspLysThrLeuArgValTrpAspTyrLysAsnLysArgCysMetLysThrLeuAsnAlaHisGluHisPheValThrSerLeuAspPheHisLysThrAlaProTyrValValThrGlySerValAspGlnThrValLysValTrpGluCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547237" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN008574", "geneNCBI_id": 5048, "geneSymbol": "PAFAH1B1", "hgvs": [ "XM_017024701.1:c.22C>T" ], "proteinEffect": { "hgvs": "XP_016880190.1:p.Arg8Ter", "hgvsWellDefined": "XP_016880190.1:p.Arg8_Arg410delinsAspGluLeuAsnArgAlaIleAlaAspTyrLeuArgSerAsnGlyTyrGluGluAlaTyrSerValPheLysLysGluAlaGluLeuAspValAsnGluGluLeuAspLysLysTyrAlaGlyLeuLeuGluLysLysTrpThrSerValIleArgLeuGlnLysLysValMetGluLeuGluSerLysLeuAsnGluAlaLysGluGluPheThrSerGlyGlyProLeuGlyGlnLysArgAspProLysGluTrpIleProArgProProGluLysTyrAlaLeuSerGlyHisArgSerProValThrArgValIlePheHisProValPheSerValMetValSerAlaSerGluAspAlaThrIleLysValTrpAspTyrGluThrGlyAspPheGluArgThrLeuLysGlyHisThrAspSerValGlnAspIleSerPheAspHisSerGlyLysLeuLeuAlaSerCysSerAlaAspMetThrIleLysLeuTrpAspPheGlnGlyPheGluCysIleArgThrMetHisGlyHisAspHisAsnValSerSerValAlaIleMetProAsnGlyAspHisIleValSerAlaSerArgAspLysThrIleLysMetTrpGluValGlnThrGlyTyrCysValLysThrPheThrGlyHisArgGluTrpValArgMetValArgProAsnGlnAspGlyThrLeuIleAlaSerCysSerAsnAspGlnThrValArgValTrpValValAlaThrLysGluCysLysAlaGluLeuArgGluHisGluHisValValGluCysIleSerTrpAlaProGluSerSerTyrSerSerIleSerGluAlaThrGlySerGluThrLysLysSerGlyLysProGlyProPheLeuLeuSerGlySerArgAspLysThrIleLysMetTrpAspValSerThrGlyMetCysLeuMetThrLeuValGlyHisAspAsnTrpValArgGlyValLeuPheHisSerGlyGlyLysPheIleLeuSerCysAlaAspAspLysThrLeuArgValTrpAspTyrLysAsnLysArgCysMetLysThrLeuAsnAlaHisGluHisPheValThrSerLeuAspPheHisLysThrAlaProTyrValValThrGlySerValAspGlnThrValLysValTrpGluCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575202" }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN008574", "geneNCBI_id": 5048, "geneSymbol": "PAFAH1B1", "hgvs": [ "XM_017024702.2:c.-89C>T" ], "proteinEffect": { "hgvs": "XP_016880191.1:n.-89C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS575203" }, { "@id": "http://reg.genome.network/allele/PA119280", "coordinates": [ { "allele": "T", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN008574", "geneNCBI_id": 5048, "geneSymbol": "PAFAH1B1", "hgvs": [ "NM_000430.4:c.22C>T" ], "proteinEffect": { "hgvs": "NP_000421.1:p.Arg8Ter", "hgvsWellDefined": "NP_000421.1:p.Arg8_Arg410delinsAspGluLeuAsnArgAlaIleAlaAspTyrLeuArgSerAsnGlyTyrGluGluAlaTyrSerValPheLysLysGluAlaGluLeuAspValAsnGluGluLeuAspLysLysTyrAlaGlyLeuLeuGluLysLysTrpThrSerValIleArgLeuGlnLysLysValMetGluLeuGluSerLysLeuAsnGluAlaLysGluGluPheThrSerGlyGlyProLeuGlyGlnLysArgAspProLysGluTrpIleProArgProProGluLysTyrAlaLeuSerGlyHisArgSerProValThrArgValIlePheHisProValPheSerValMetValSerAlaSerGluAspAlaThrIleLysValTrpAspTyrGluThrGlyAspPheGluArgThrLeuLysGlyHisThrAspSerValGlnAspIleSerPheAspHisSerGlyLysLeuLeuAlaSerCysSerAlaAspMetThrIleLysLeuTrpAspPheGlnGlyPheGluCysIleArgThrMetHisGlyHisAspHisAsnValSerSerValAlaIleMetProAsnGlyAspHisIleValSerAlaSerArgAspLysThrIleLysMetTrpGluValGlnThrGlyTyrCysValLysThrPheThrGlyHisArgGluTrpValArgMetValArgProAsnGlnAspGlyThrLeuIleAlaSerCysSerAsnAspGlnThrValArgValTrpValValAlaThrLysGluCysLysAlaGluLeuArgGluHisGluHisValValGluCysIleSerTrpAlaProGluSerSerTyrSerSerIleSerGluAlaThrGlySerGluThrLysLysSerGlyLysProGlyProPheLeuLeuSerGlySerArgAspLysThrIleLysMetTrpAspValSerThrGlyMetCysLeuMetThrLeuValGlyHisAspAsnTrpValArgGlyValLeuPheHisSerGlyGlyLysPheIleLeuSerCysAlaAspAspLysThrLeuArgValTrpAspTyrLysAsnLysArgCysMetLysThrLeuAsnAlaHisGluHisPheValThrSerLeuAspPheHisLysThrAlaProTyrValValThrGlySerValAspGlnThrValLysValTrpGluCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662440", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397195.10:c.22C>T" }, "RefSeq": { "hgvs": "NM_000430.4:c.22C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380378.4:p.Arg8Ter" }, "RefSeq": { "hgvs": "NP_000421.1:p.Arg8Ter" } } } } ], "type": "nucleotide" }