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"XP_016872322.1:p.Gln1137_Leu1346delinsProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569151" }, { "coordinates": [ { "allele": "T", "end": 3418, "referenceAllele": "C", "start": 3417 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_017016834.2:c.3331C>T" ], "proteinEffect": { "hgvs": "XP_016872323.1:p.Gln1111Ter", "hgvsWellDefined": "XP_016872323.1:p.Gln1111_Leu1320delinsProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569152" }, { "coordinates": [ { "allele": "T", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_024448236.1:c.2209C>T" ], "proteinEffect": { "hgvs": "XP_024304004.1:p.Gln737Ter", "hgvsWellDefined": "XP_024304004.1:p.Gln737_Leu946delinsProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581816" }, { "coordinates": [ { "allele": "T", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045662.4:n.2868C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702392" }, { "coordinates": [ { "allele": "T", "end": 3405, "referenceAllele": "C", "start": 3404 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045663.4:n.3405C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702393" }, { "coordinates": [ { "allele": "T", "end": 3628, "referenceAllele": "C", "start": 3627 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256267.2:c.3331C>T" ], "proteinEffect": { "hgvs": "NP_001243196.1:p.Gln1111Ter", "hgvsWellDefined": "NP_001243196.1:p.Gln1111_Leu1320delinsProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714731" }, { "coordinates": [ { "allele": "T", "end": 3872, "referenceAllele": "C", "start": 3871 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256268.2:c.2449C>T" ], "proteinEffect": { "hgvs": "NP_001243197.1:p.Gln817Ter", "hgvsWellDefined": "NP_001243197.1:p.Gln817_Leu1026delinsProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714732" }, { "coordinates": [ { "allele": "T", "end": 3568, "referenceAllele": "C", "start": 3567 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_032578.4:c.3331C>T" ], "proteinEffect": { "hgvs": "NP_115967.2:p.Gln1111Ter", "hgvsWellDefined": "NP_115967.2:p.Gln1111_Leu1320delinsProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358913.10:c.3331C>T" }, "RefSeq": { "hgvs": "NM_032578.4:c.3331C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351790.5:p.Gln1111Ter" }, "RefSeq": { "hgvs": "NP_115967.2:p.Gln1111Ter" } } } } ], "type": "nucleotide" }