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"proteinEffect": { "hgvs": "XP_016876705.1:p.Trp58Ter", "hgvsWellDefined": "XP_016876705.1:p.Trp58_Leu237delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572480" }, { "coordinates": [ { "allele": "A", "end": 282, "referenceAllele": "G", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_017021217.1:c.174G>A" ], "proteinEffect": { "hgvs": 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"hgvs": "NP_001092744.1:p.Trp272Ter", "hgvsWellDefined": "NP_001092744.1:p.Trp272_Leu451delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663407", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267415.12:c.816G>A" }, "RefSeq": { "hgvs": "NM_001099274.3:c.816G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267415.7:p.Trp272Ter" }, "RefSeq": { "hgvs": "NP_001092744.1:p.Trp272Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828102062", "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.2:c.711G>A" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Trp237Ter", "hgvsWellDefined": "NP_001350597.1:p.Trp237_Leu416delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690732" } ], "type": "nucleotide" }