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"NP_700476.1:p.Trp133_Val271delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "G", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.536G>A" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Trp179Ter", "hgvsWellDefined": "XP_006714298.1:p.Trp179_Val317delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "A", "end": 1839, "referenceAllele": "G", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.398G>A" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Trp133Ter", "hgvsWellDefined": "XP_011530329.1:p.Trp133_Val271delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.203G>A" ], "proteinEffect": { "hgvs": "XP_024309858.1:p.Trp68Ter", "hgvsWellDefined": "XP_024309858.1:p.Trp68_Val206delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA915960390", "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.557G>A" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Trp186Ter", "hgvsWellDefined": "NP_000316.2:p.Trp186_Val324delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.557G>A" }, "RefSeq": { "hgvs": "NM_000325.6:c.557G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Trp186Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Trp186Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271569", "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.536G>A" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Trp179Ter", "hgvsWellDefined": "NP_001191326.1:p.Trp179_Val317delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA2830327810", "coordinates": [ { "allele": "A", "end": 777, "referenceAllele": "G", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.536G>A" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Trp179Ter", "hgvsWellDefined": "NP_700475.1:p.Trp179_Val317delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA119288", "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.398G>A" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Trp133Ter", "hgvsWellDefined": "NP_700476.1:p.Trp133_Val271delinsAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }