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"XP_005267585.1:p.Arg267_His435delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysValThrSerCysTrpCysSerGlyThrGlySerArgHisGluArgThrMetLysLysLeuAspGlyAlaCysValSerLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065447" }, { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_005267529.2:c.691C>T" ], "proteinEffect": { "hgvs": "XP_005267586.1:p.Arg231Ter", "hgvsWellDefined": "XP_005267586.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065448" }, { "@id": "http://reg.genome.network/allele/PA2825535752", "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.2:c.796C>T" ], "proteinEffect": { "hgvs": "NP_001092744.1:p.Arg266Ter", "hgvsWellDefined": "NP_001092744.1:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511297" }, { "@id": "http://reg.genome.network/allele/PA2828102055", "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.1:c.691C>T" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Arg231Ter", "hgvsWellDefined": "NP_001350597.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523463" }, { "@id": "http://reg.genome.network/allele/PA645493018", "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_012461.3:c.796C>T" ], "proteinEffect": { "hgvs": "NP_036593.2:p.Arg266Ter", "hgvsWellDefined": "NP_036593.2:p.Arg267_Glu354delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525519" }, { "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "C", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_011536642.2:c.*176C>T" ], "proteinEffect": { "hgvs": "XP_011534944.1:n.*176C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS552576" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_017021216.2:c.154C>T" ], "proteinEffect": { "hgvs": "XP_016876705.1:p.Arg52Ter", "hgvsWellDefined": "XP_016876705.1:p.Arg53_Leu237delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572480" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_017021217.1:c.154C>T" ], "proteinEffect": { "hgvs": "XP_016876706.1:p.Arg52Ter", "hgvsWellDefined": "XP_016876706.1:p.Arg53_Leu237delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572481" }, { "@id": "http://reg.genome.network/allele/PA2825535752", "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.3:c.796C>T" ], "proteinEffect": { "hgvs": "NP_001092744.1:p.Arg266Ter", "hgvsWellDefined": "NP_001092744.1:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663407", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267415.12:c.796C>T" }, "RefSeq": { "hgvs": "NM_001099274.3:c.796C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267415.7:p.Arg266Ter" }, "RefSeq": { "hgvs": "NP_001092744.1:p.Arg266Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828102055", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.2:c.691C>T" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Arg231Ter", "hgvsWellDefined": "NP_001350597.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690732" } ], "type": "nucleotide" }