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"NP_001025067.1:p.Gln4_Phe360delinsProLeuArgGlyValThrSerLeuArgPheAsnGlnAspGlnSerCysPheCysCysAlaMetGluThrGlyValArgIleTyrAsnValGluProLeuMetGluLysGlyHisLeuAspHisGluGlnValGlySerMetGlyLeuValGluMetLeuHisArgSerAsnLeuLeuAlaLeuValGlyGlyGlySerSerProLysPheSerGluIleSerValLeuIleTrpAspAspAlaArgGluGlyLysAspSerLysGluLysLeuValLeuGluPheThrPheThrLysProValLeuSerValArgMetArgHisAspLysIleValIleValLeuLysAsnArgIleTyrValTyrSerPheProAspAsnProArgLysLeuPheGluPheAspThrArgAspAsnProLysGlyLeuCysAspLeuCysProSerLeuGluLysGlnLeuLeuValPheProGlyHisLysCysGlySerLeuGlnLeuValAspLeuAlaSerThrLysProGlyThrSerSerAlaProPheThrIleAsnAlaHisGlnSerAspIleAlaCysValSerLeuAsnGlnProGlyThrValValAlaSerAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663021", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376372.9:c.10C>T" }, "RefSeq": { "hgvs": "NM_001029896.2:c.10C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365551.3:p.Gln4Ter" }, "RefSeq": { "hgvs": "NP_001025067.1:p.Gln4Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139720489", "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "NM_007075.4:c.10C>T" ], "proteinEffect": { "hgvs": "NP_009006.2:p.Gln4Ter", "hgvsWellDefined": "NP_009006.2:p.Gln4_Phe361delinsProLeuArgGlyValThrSerLeuArgPheAsnGlnAspGlnSerCysPheCysCysAlaMetGluThrGlyValArgIleTyrAsnValGluProLeuMetGluLysGlyHisLeuAspHisGluGlnValGlySerMetGlyLeuValGluMetLeuHisArgSerAsnLeuLeuAlaLeuValGlyGlyGlySerSerProLysPheSerGluIleSerAlaValLeuIleTrpAspAspAlaArgGluGlyLysAspSerLysGluLysLeuValLeuGluPheThrPheThrLysProValLeuSerValArgMetArgHisAspLysIleValIleValLeuLysAsnArgIleTyrValTyrSerPheProAspAsnProArgLysLeuPheGluPheAspThrArgAspAsnProLysGlyLeuCysAspLeuCysProSerLeuGluLysGlnLeuLeuValPheProGlyHisLysCysGlySerLeuGlnLeuValAspLeuAlaSerThrLysProGlyThrSerSerAlaProPheThrIleAsnAlaHisGlnSerAspIleAlaCysValSerLeuAsnGlnProGlyThrValValAlaSerAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727799" } ], "type": "nucleotide" }