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"XP_006720026.2:p.Gln156_Pro412delinsGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539990" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537474.2:c.715C>T" ], "proteinEffect": { "hgvs": "XP_011535776.2:p.Gln239Ter", "hgvsWellDefined": "XP_011535776.2:p.Gln239_Pro495delinsGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552907" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537475.2:c.529C>T" ], "proteinEffect": { "hgvs": "XP_011535777.2:p.Gln177Ter", "hgvsWellDefined": "XP_011535777.2:p.Gln177_Pro433delinsGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552908" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "XM_011537476.2:c.322C>T" ], "proteinEffect": { "hgvs": "XP_011535778.1:p.Gln108Ter", "hgvsWellDefined": "XP_011535778.1:p.Gln108_Pro364delinsGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552909" }, { "@id": "http://reg.genome.network/allele/PA121868", "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_019616.4:c.562C>T" ], "proteinEffect": { "hgvs": "NP_062562.1:p.Gln188Ter", "hgvsWellDefined": "NP_062562.1:p.Gln188_Pro444delinsGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000346342.8:c.562C>T" }, "RefSeq": { "hgvs": "NM_019616.4:c.562C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000329546.4:p.Gln188Ter" }, "RefSeq": { "hgvs": "NP_062562.1:p.Gln188Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NR_051961.2:n.646C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702601" }, { "@id": "http://reg.genome.network/allele/PA121867", "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN003544", "geneNCBI_id": 2155, "geneSymbol": "F7", "hgvs": [ "NM_001267554.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001254483.1:p.Gln126Ter", "hgvsWellDefined": "NP_001254483.1:p.Gln126_Pro382delinsGlyArgIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715076" } ], "type": "nucleotide" }