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"proteinEffect": { "hgvs": "NP_001341527.2:p.Lys239Ter", "hgvsWellDefined": "NP_001341527.2:p.Lys239_Ala444delinsLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690244" }, { "@id": "http://reg.genome.network/allele/PA2827880523", "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "A", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354599.3:c.802A>T" ], "proteinEffect": { "hgvs": "NP_001341528.2:p.Lys268Ter", "hgvsWellDefined": "NP_001341528.2:p.Lys268_His452delinsLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690245" }, { "@id": "http://reg.genome.network/allele/PA2580223854", "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "A", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354600.3:c.802A>T" ], "proteinEffect": { "hgvs": "NP_001341529.2:p.Lys268Ter", "hgvsWellDefined": "NP_001341529.2:p.Lys268_Ala473delinsLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690246" }, { "@id": "http://reg.genome.network/allele/PA2827881119", "coordinates": 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"NP_001341530.2:p.Lys239_Cys484delinsLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690247" }, { "@id": "http://reg.genome.network/allele/PA2829367034", "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "A", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_002225.5:c.715A>T" ], "proteinEffect": { "hgvs": "NP_002216.3:p.Lys239Ter", "hgvsWellDefined": "NP_002216.3:p.Lys239_His423delinsLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000487418.8:c.715A>T" }, "RefSeq": { "hgvs": "NM_002225.5:c.715A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000418397.3:p.Lys239Ter" }, "RefSeq": { "hgvs": "NP_002216.3:p.Lys239Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "A", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NR_148925.2:n.1127A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704888" } ], "type": "nucleotide" }