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"XP_005245568.1:p.Arg172_Tyr342delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532440" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510024.2:c.769C>T" ], "proteinEffect": { "hgvs": "XP_011508326.1:p.Arg257Ter", "hgvsWellDefined": "XP_011508326.1:p.Arg257_Thr440delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541542" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510025.2:c.709C>T" ], "proteinEffect": { "hgvs": "XP_011508327.1:p.Arg237Ter", "hgvsWellDefined": "XP_011508327.1:p.Arg237_Thr420delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541543" }, { "coordinates": [ { "allele": "T", "end": 1184, "referenceAllele": "C", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_011510026.2:c.1072C>T" ], "proteinEffect": { "hgvs": "XP_011508328.1:p.Arg358Ter", "hgvsWellDefined": "XP_011508328.1:p.Arg358_Pro419delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnIleProAlaAlaSerLeuHisPheProLeuLeuLysMetArgHisGlnLeuSerPheLeuLeuHisSerTyrHisIleProIleProPheSerSerLeuProSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541544" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_017002417.1:c.709C>T" ], "proteinEffect": { "hgvs": "XP_016857906.1:p.Arg237Ter", "hgvsWellDefined": "XP_016857906.1:p.Arg237_Tyr407delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558376" }, { "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_024450038.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_024305806.1:p.Arg172Ter", "hgvsWellDefined": "XP_024305806.1:p.Arg172_Thr355delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583580" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "XM_024450039.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_024305807.1:p.Arg172Ter", "hgvsWellDefined": "XP_024305807.1:p.Arg172_Tyr342delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583581" }, { "@id": "http://reg.genome.network/allele/PA2827344326", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_001330723.2:c.1072C>T" ], "proteinEffect": { "hgvs": "NP_001317652.1:p.Arg358Ter", "hgvsWellDefined": "NP_001317652.1:p.Arg358_Thr541delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000458013.7:c.1072C>T" }, "RefSeq": { "hgvs": "NM_001330723.2:c.1072C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400333.2:p.Arg358Ter" }, "RefSeq": { "hgvs": "NP_001317652.1:p.Arg358Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741994044", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN020073", "geneNCBI_id": 81609, "geneSymbol": "SNX27", "hgvs": [ "NM_030918.6:c.1072C>T" ], "proteinEffect": { "hgvs": "NP_112180.4:p.Arg358Ter", "hgvsWellDefined": "NP_112180.4:p.Arg358_Tyr528delinsLysTrpLeuPheThrThrGluGluGluIleLeuLeuAsnAspAsnAspLeuAlaValThrTyrPhePheHisGlnAlaValAspAspValLysLysGlyTyrIleLysAlaGluGluLysSerTyrGlnLeuGlnLysLeuTyrGluGlnArgLysMetValMetTyrLeuAsnMetLeuArgThrCysGluGlyTyrAsnGluIleIlePheProHisCysAlaCysAspSerArgArgLysGlyHisValIleThrAlaIleSerIleThrHisPheLysLeuHisAlaCysThrGluGluGlyGlnLeuGluAsnGlnValIleAlaPheGluTrpAspGluMetGlnArgTrpAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698899" } ], "type": "nucleotide" }