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"http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1143_1144dup" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Glu382GlyfsTer?", "hgvsWellDefined": "NP_001041639.1:p.[Glu382_Pro383delinsGly;Glu385Pro;Leu387_Lys390delinsSerSerPheSer;Leu392_Ala400delinsArgProCysCysArgAsnTyrSerVal;Gly401_Pro402insLeuGly;Leu403delinsSerGln;Ala405Arg;His407_His410delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1143_1144dup" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1143_1144dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Glu382GlyfsTer?" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Glu382GlyfsTer?" } } } }, { "coordinates": [ { "allele": "GG", "end": 1375, "referenceAllele": "", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1188_1189dup" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Glu397GlyfsTer?", "hgvsWellDefined": "NP_001280119.1:p.[Glu397_Pro398delinsGly;Glu400Pro;Leu402_Lys405delinsSerSerPheSer;Leu407_Ala415delinsArgProCysCysArgAsnTyrSerVal;Gly416_Pro417insLeuGly;Leu418delinsSerGln;Ala420Arg;His422_His425delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "coordinates": [ { "allele": "GG", "end": 1255, "referenceAllele": "", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1176_1177dup" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Glu393GlyfsTer?", "hgvsWellDefined": "NP_001280120.1:p.[Glu393_Pro394delinsGly;Glu396Pro;Leu398_Lys401delinsSerSerPheSer;Leu403_Ala411delinsArgProCysCysArgAsnTyrSerVal;Gly412_Pro413insLeuGly;Leu414delinsSerGln;Ala416Arg;His418_His421delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "GG", "end": 1308, "referenceAllele": "", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.867_868dup" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Glu290GlyfsTer?", "hgvsWellDefined": "NP_001280121.1:p.[Glu290_Pro291delinsGly;Glu293Pro;Leu295_Lys298delinsSerSerPheSer;Leu300_Ala308delinsArgProCysCysArgAsnTyrSerVal;Gly309_Pro310insLeuGly;Leu311delinsSerGln;Ala313Arg;His315_His318delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "coordinates": [ { "allele": "GG", "end": 1372, "referenceAllele": "", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1143_1144dup" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Glu382GlyfsTer?", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.798_799dup" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Glu267GlyfsTer?", "hgvsWellDefined": "NP_001337579.1:p.[Glu267_Pro268delinsGly;Glu270Pro;Leu272_Lys275delinsSerSerPheSer;Leu277_Ala285delinsArgProCysCysArgAsnTyrSerVal;Gly286_Pro287insLeuGly;Leu288delinsSerGln;Ala290Arg;His292_His295delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "GG", "end": 1234, "referenceAllele": "", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.798_799dup" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Glu267GlyfsTer?", "hgvsWellDefined": "NP_001337580.1:p.[Glu267_Pro268delinsGly;Glu270Pro;Leu272_Lys275delinsSerSerPheSer;Leu277_Ala285delinsArgProCysCysArgAsnTyrSerVal;Gly286_Pro287insLeuGly;Leu288delinsSerGln;Ala290Arg;His292_His295delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "coordinates": [ { "allele": "GG", "end": 1405, "referenceAllele": "", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1218_1219dup" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Glu407GlyfsTer?", "hgvsWellDefined": "NP_036354.1:p.[Glu407_Pro408delinsGly;Glu410Pro;Leu412_Lys415delinsSerSerPheSer;Leu417_Ala425delinsArgProCysCysArgAsnTyrSerVal;Gly426_Pro427insLeuGly;Leu428delinsSerGln;Ala430Arg;His432_His435delinsSerGlyThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "GG", "end": 1372, "referenceAllele": "", "start": 1372 } ], "gene": 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