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"ENSP00000267415.7:p.Cys27_Leu451delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251989" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000399423.8:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000382350.4:p.Cys27Ter", "hgvsWellDefined": "ENSP00000382350.4:p.Cys27_Glu354delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278673" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000557921.1:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000453157.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000453157.1:p.Cys27_Val91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373413" }, { "coordinates": [ { "allele": "A", "end": 209, "endIntronDirection": "+", "endIntronOffset": 125, "referenceAllele": "C", "start": 209, "startIntronDirection": "+", "startIntronOffset": 124 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000558476.5:c.-247+125C>A" ], "proteinEffect": { "hgvs": "ENSP00000452724.1:n.-247+125C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS373824" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000558510.1:n.384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373854" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000558566.1:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000453025.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000453025.1:p.Cys27_Gln140delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnSerAlaLeuLeuLeuThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373903" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000559019.1:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000453675.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000453675.1:p.Cys27_Gln71delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysSerAlaLeuLeuLeuThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374244" }, { "coordinates": [ { "allele": "A", "end": 91, "referenceAllele": "C", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000559147.1:n.91C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374351" }, { "coordinates": [ { "allele": "A", "end": 37, "referenceAllele": "C", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000559969.5:c.37C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374996" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "ENST00000626689.2:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000486681.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000486681.1:p.Cys27_Gln140delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnSerAlaLeuLeuLeuThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406771" }, { "@id": "http://reg.genome.network/allele/PA2825535598", "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001092744.1:p.Cys27Ter", "hgvsWellDefined": "NP_001092744.1:p.Cys27_Leu451delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010716" }, { "@id": "http://reg.genome.network/allele/PA645492959", "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_012461.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_036593.2:p.Cys27Ter", "hgvsWellDefined": "NP_036593.2:p.Cys27_Glu354delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032610" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_005267528.2:c.81C>A" ], "proteinEffect": { "hgvs": "XP_005267585.1:p.Cys27Ter", "hgvsWellDefined": "XP_005267585.1:p.Cys27_His435delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysValThrSerCysTrpCysSerGlyThrGlySerArgHisGluArgThrMetLysLysLeuAspGlyAlaCysValSerLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065447" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_005267529.2:c.81C>A" ], "proteinEffect": { "hgvs": "XP_005267586.1:p.Cys27Ter", "hgvsWellDefined": "XP_005267586.1:p.Cys27_Leu416delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065448" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_011536642.1:c.81C>A" ], "proteinEffect": { "hgvs": "XP_011534944.1:p.Cys27Ter", "hgvsWellDefined": "XP_011534944.1:p.Cys27_Tyr180delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnValSerLeuGlyGlnAsnIleValLeuCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103627" }, { "@id": "http://reg.genome.network/allele/PA2825535598", "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001092744.1:p.Cys27Ter", "hgvsWellDefined": "NP_001092744.1:p.Cys27_Leu451delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511297" }, { "@id": "http://reg.genome.network/allele/PA2828101940", "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Cys27Ter", "hgvsWellDefined": "NP_001350597.1:p.Cys27_Leu416delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523463" }, { "@id": "http://reg.genome.network/allele/PA645492959", "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_012461.3:c.81C>A" ], "proteinEffect": { "hgvs": "NP_036593.2:p.Cys27Ter", "hgvsWellDefined": "NP_036593.2:p.Cys27_Glu354delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525519" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_011536642.2:c.81C>A" ], "proteinEffect": { "hgvs": "XP_011534944.1:p.Cys27Ter", "hgvsWellDefined": "XP_011534944.1:p.Cys27_Tyr180delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnValSerLeuGlyGlnAsnIleValLeuCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552576" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "XM_017021216.2:c.-150C>A" ], "proteinEffect": { "hgvs": "XP_016876705.1:n.-150C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS572480" }, { "@id": "http://reg.genome.network/allele/PA2825535598", "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001099274.3:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001092744.1:p.Cys27Ter", "hgvsWellDefined": "NP_001092744.1:p.Cys27_Leu451delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysValValValGluLeuIleLeuGlnGlyArgProTrpAlaGlnValLeuLysAlaLeuAsnHisHisPheProGluSerGlyProIleValArgAspProLysAlaThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663407", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000267415.12:c.81C>A" }, "RefSeq": { "hgvs": "NM_001099274.3:c.81C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000267415.7:p.Cys27Ter" }, "RefSeq": { "hgvs": "NP_001092744.1:p.Cys27Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828101940", "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN011824", "geneNCBI_id": 26277, "geneSymbol": "TINF2", "hgvs": [ "NM_001363668.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001350597.1:p.Cys27Ter", "hgvsWellDefined": "NP_001350597.1:p.Cys27_Leu416delinsValGluHisPheProArgValLeuGluPheLeuArgSerLeuArgAlaValAlaProGlyLeuValArgTyrArgHisHisGluArgLeuCysMetGlyLeuLysAlaLysThrLysGlnAspLeuArgLysIleLeuGluAlaGlnGluThrPheTyrGlnGlnValLysGlnLeuSerGluAlaProValAspLeuAlaSerLysLeuGlnGluLeuGluGlnGluTyrGlyGluProPheLeuAlaAlaMetGluLysLeuLeuPheGluTyrLeuCysGlnLeuGluLysAlaLeuProThrProGlnAlaGlnGlnLeuGlnAspValLeuSerTrpMetGlnProGlyValSerIleThrSerSerLeuAlaTrpArgGlnTyrGlyValAspMetGlyTrpLeuLeuProGluCysSerValThrAspSerValAsnLeuAlaGluProMetGluGlnAsnProProGlnGlnGlnArgLeuAlaLeuHisAsnProLeuProLysAlaLysProGlyThrHisLeuProGlnGlyProSerSerArgThrHisProGluProLeuAlaGlyArgHisPheAsnLeuAlaProLeuGlyArgArgArgValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690732" } ], "type": "nucleotide" }