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"XP_016878611.1:p.Cys226_Thr395delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573937" }, { "coordinates": [ { "allele": "A", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN004166", "geneNCBI_id": 2622, "geneSymbol": "GAS8", "hgvs": [ "XM_017023123.1:c.678C>A" ], "proteinEffect": { "hgvs": "XP_016878612.1:p.Cys226Ter", "hgvsWellDefined": "XP_016878612.1:p.Cys226_Thr395delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573938" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN004166", "geneNCBI_id": 2622, "geneSymbol": "GAS8", "hgvs": [ "XM_017023124.1:c.351C>A" ], "proteinEffect": { "hgvs": "XP_016878613.1:p.Cys117Ter", "hgvsWellDefined": 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"XP_016878614.1:p.Cys117_Thr286delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573940" }, { "coordinates": [ { "allele": "A", "end": 2886, "referenceAllele": "C", "start": 2885 } ], "gene": "http://reg.genome.network/gene/GN004166", "geneNCBI_id": 2622, "geneSymbol": "GAS8", "hgvs": [ "XM_024450228.1:c.852C>A" ], "proteinEffect": { "hgvs": "XP_024305996.1:p.Cys284Ter", "hgvsWellDefined": 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"NP_001472.1:p.Cys309_Thr478delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665008", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268699.9:c.927C>A" }, "RefSeq": { "hgvs": "NM_001481.3:c.927C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268699.4:p.Cys309Ter" }, "RefSeq": { "hgvs": "NP_001472.1:p.Cys309Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826715510", "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN004166", "geneNCBI_id": 2622, "geneSymbol": "GAS8", "hgvs": [ "NM_001286205.2:c.678C>A" ], "proteinEffect": { "hgvs": "NP_001273134.1:p.Cys226Ter", "hgvsWellDefined": "NP_001273134.1:p.Cys226_Thr395delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716149" }, { "@id": "http://reg.genome.network/allele/PA2826715937", "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN004166", "geneNCBI_id": 2622, "geneSymbol": "GAS8", "hgvs": [ "NM_001286208.2:c.351C>A" ], "proteinEffect": { "hgvs": "NP_001273137.1:p.Cys117Ter", "hgvsWellDefined": "NP_001273137.1:p.Cys117_Thr286delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716150" }, { "@id": "http://reg.genome.network/allele/PA280935", "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004166", "geneNCBI_id": 2622, "geneSymbol": "GAS8", "hgvs": [ "NM_001286209.2:c.852C>A" ], "proteinEffect": { "hgvs": "NP_001273138.1:p.Cys284Ter", "hgvsWellDefined": "NP_001273138.1:p.Cys284_Thr453delinsThrLysAlaArgLeuLysValArgGluLysGluLeuLysAspLeuGlnTrpGluHisGluValLeuGluGlnArgPheThrLysValGlnGlnGluArgAspGluLeuTyrArgLysPheThrAlaAlaIleGlnGluValGlnGlnLysThrGlyPheLysAsnLeuValLeuGluArgLysLeuGlnAlaLeuSerAlaAlaValGluLysLysGluValGlnPheAsnGluValLeuAlaAlaSerAsnLeuAspProAlaAlaLeuThrLeuValSerArgLysLeuGluAspValLeuGluSerLysAsnSerThrIleLysAspLeuGlnTyrGluLeuAlaGlnValCysLysAlaHisAsnAspLeuLeuArgThrTyrGluAlaLysLeuLeuAlaPheGlyIleProLeuAspAsnValGlyPheLysProLeuGluThrAlaValIleGlyGlnThrLeuGlyGlnGlyProAlaGlyLeuValGlyThrProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716151" } ], "type": "nucleotide" }