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"geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.1546C>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Gln516Ter", "hgvsWellDefined": "NP_001336832.1:p.Gln516_Asn649delinsGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValLysCysLeuHisGlyCysValArgLeuLeuGlnProHisProGlyAspIlePheProAlaAlaGlyThrCysSerThrGluLeuArgLeuProLysProSerGlyTrpArgLeuGlnProLeuArgGlnSerLysAlaGluAlaAlaGluAlaArgGlyGluLeuAlaLeuAsnCysThrGlnGluValThrGlyLysGluLysThrSerLysGlySerSerAlaPheTyrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470665", "coordinates": [ { "allele": "T", "end": 2134, "referenceAllele": "C", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.1546C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln516Ter", "hgvsWellDefined": "NP_001336833.1:p.Gln516_Ser655delinsGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.1801C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "T", "end": 2243, "referenceAllele": "C", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.2243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "T", "end": 2088, "referenceAllele": "C", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.2088C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "T", "end": 2159, "referenceAllele": "C", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.2159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA2829964989", "coordinates": [ { "allele": "T", "end": 2134, "referenceAllele": "C", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.1546C>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln516Ter", "hgvsWellDefined": "NP_071364.4:p.Gln516_Leu708delinsGlyAlaGlyProSerAlaAspGlyIleSerSerArgLeuThrProAlaGluSerCysMetGlyLeuValArgMetAsnLeuTyrThrHisCysValLysGlyLeuValLeuSerLeuLeuAlaGluGluProLeuLeuGlyAspSerAlaAlaIleGluGluValTyrHisSerSerLeuAlaSerLeuAsnGlyLeuGluValHisLeuLysGluThrLeuProArgAspGluAlaAlaSerThrSerSerThrTyrAsnPheThrHisTyrAspArgIleGlnSerLeuLeuMetAlaAsnLeuProGlnValAlaThrProGlnAspArgArgPheLeuGlnAlaValSerLeuMetHisSerGluPheAlaGlnLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.1546C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.1546C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln516Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln516Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2134, "referenceAllele": "C", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.2134C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }