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"XP_005267585.1:p.Trp272_His435delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysValThrSerCysTrpCysSerGlyThrGlySerArgHisGluArgThrMetLysLysLeuAspGlyAlaCysValSerLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065447" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_005267529.2:c.710G>A" ], "proteinEffect": { "hgvs": "XP_005267586.1:p.Trp237Ter", "hgvsWellDefined": "XP_005267586.1:p.Trp237_Leu416delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065448" }, { "@id": "http://reg.genome.network/allele/PA2825535756", "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.2:c.815G>A" ], "proteinEffect": { "hgvs": "NP_001092744.1:p.Trp272Ter", "hgvsWellDefined": "NP_001092744.1:p.Trp272_Leu451delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511297" }, { "@id": "http://reg.genome.network/allele/PA2828102062", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.1:c.710G>A" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Trp237Ter", "hgvsWellDefined": "NP_001350597.1:p.Trp237_Leu416delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523463" }, { "@id": "http://reg.genome.network/allele/PA2580376083", "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_012461.3:c.815G>A" ], "proteinEffect": { "hgvs": "NP_036593.2:p.Trp272Ter", "hgvsWellDefined": "NP_036593.2:p.Trp272_Glu354delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525519" }, { "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_011536642.2:c.*195G>A" ], "proteinEffect": { "hgvs": "XP_011534944.1:n.*195G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS552576" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_017021216.2:c.173G>A" ], "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": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_017021217.1:c.173G>A" ], "proteinEffect": { "hgvs": "XP_016876706.1:p.Trp58Ter", "hgvsWellDefined": "XP_016876706.1:p.Trp58_Leu237delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572481" }, { "@id": "http://reg.genome.network/allele/PA2825535756", "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.3:c.815G>A" ], "proteinEffect": { "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.815G>A" }, "RefSeq": { "hgvs": "NM_001099274.3:c.815G>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": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.2:c.710G>A" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Trp237Ter", "hgvsWellDefined": "NP_001350597.1:p.Trp237_Leu416delinsAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690732" } ], "type": "nucleotide" }