{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16617162", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211AlafsTer28)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405197[alleleid]", "alleleId": 405197, "preferredName": "NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418342", "RCV": [ "RCV000482643", "RCV000792421", "RCV002374880" ], "variationId": 418342 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793197", "rs": 1064793197 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "AGCAGCTG", "end": 45332463, "referenceAllele": "GTGCTA", "start": 45332457 } ], "hgvs": [ "NC_000001.11:g.45332458_45332463delinsAGCAGCTG", "CM000663.2:g.45332458_45332463delinsAGCAGCTG" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "AGCAGCTG", "end": 45798135, "referenceAllele": "GTGCTA", "start": 45798129 } ], "hgvs": [ "NC_000001.10:g.45798130_45798135delinsAGCAGCTG", "CM000663.1:g.45798130_45798135delinsAGCAGCTG" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "AGCAGCTG", "end": 45570722, "referenceAllele": "GTGCTA", "start": 45570716 } ], "hgvs": [ "NC_000001.9:g.45570717_45570722delinsAGCAGCTG" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 13013, "referenceAllele": "TAGCAC", "start": 13007 } ], "hgvs": [ "NG_008189.1:g.13008_13013delinsCAGCTGCT", "LRG_220:g.13008_13013delinsCAGCTGCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CAGCTGCT", "end": 380, "referenceAllele": "TAGCAC", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.248_253delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Val83AlafsTer28", "hgvsWellDefined": "ENSP00000410263.2:p.[Val83Ala;Arg85_Leu87delinsAlaGlyCys;Arg89Ala;Arg91_Asp96delinsSerGluProLeuValLeuIle;Ser98_Thr100delinsAlaAlaPro;Val102_Trp107delinsPheProSerSerSer;Leu109_Leu113del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 821, "referenceAllele": "TAGCAC", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.665_670delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Val222AlafsTer28", "hgvsWellDefined": "ENSP00000403655.2:p.[Val222Ala;Arg224_Leu226delinsAlaGlyCys;Arg228Ala;Arg230_Asp235delinsSerGluProLeuValLeuIle;Ser237_Thr239delinsAlaAlaPro;Val241_Trp246delinsPheProSerSerSer;Leu248_Leu252del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 715, "referenceAllele": "TAGCAC", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000435889.2:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 1161, "referenceAllele": "TAGCAC", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.650_655delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Val217AlafsTer28", "hgvsWellDefined": "ENSP00000436469.2:p.[Val217Ala;Arg219_Leu221delinsAlaGlyCys;Arg223Ala;Arg225_Asp230delinsSerGluProLeuValLeuIle;Ser232_Thr234delinsAlaAlaPro;Val236_Trp241delinsPheProSerSerSer;Leu243_Leu247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 689, "referenceAllele": "TAGCAC", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000431264.2:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 840, "referenceAllele": "TAGCAC", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.674_679delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Val225AlafsTer28", "hgvsWellDefined": "ENSP00000432528.2:p.[Val225Ala;Arg227_Leu229delinsAlaGlyCys;Arg231Ala;Arg233_Asp238delinsSerGluProLeuValLeuIle;Ser240_Thr242delinsAlaAlaPro;Val244_Trp249delinsPheProSerSerSer;Leu251_Leu255del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 266, "referenceAllele": "TAGCAC", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.255_260delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:p.Thr87CysfsTer?", "hgvsWellDefined": "ENSP00000436430.2:p.[Thr87delinsCysTrpValLeuCysArgValArgAlaIle;Val90Asp;Cys92_Pro93delinsSerSerThrLeuVal;His95delinsGlnGlnLeu;Cys97delinsGlyLeuAlaGlnGlnLeuVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 1767, "referenceAllele": "TAGCAC", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000500828.2:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 699, "referenceAllele": "TAGCAC", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*544_*549delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*544_*549delinsCAGCTGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 907, "referenceAllele": "TAGCAC", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.716_721delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Val239AlafsTer28", "hgvsWellDefined": "ENSP00000518552.2:p.[Val239Ala;Arg241_Leu243delinsAlaGlyCys;Arg245Ala;Arg247_Asp252delinsSerGluProLeuValLeuIle;Ser254_Thr256delinsAlaAlaPro;Val258_Trp263delinsPheProSerSerSer;Leu265_Leu269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.716_721delinsCAGCTGCT" }, "RefSeq": { "hgvs": "NM_001128425.2:c.716_721delinsCAGCTGCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val239AlafsTer28" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val239AlafsTer28" } } } }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 898, "referenceAllele": "TAGCAC", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.707_712delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val236AlafsTer28", "hgvsWellDefined": "ENSP00000500891.1:p.[Val236Ala;Arg238_Leu240delinsAlaGlyCys;Arg242Ala;Arg244_Asp249delinsSerGluProLeuValLeuIle;Ser251_Thr253delinsAlaAlaPro;Val255_Trp260delinsPheProSerSerSer;Leu262_Leu266del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 792, "referenceAllele": "TAGCAC", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.642_647delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Thr216CysfsTer?", "hgvsWellDefined": "ENSP00000408176.2:p.[Thr216delinsCysTrpValLeuCysArgValArgAlaIle;Val219Asp;Cys221_Pro222delinsSerSerThrLeuVal;His224delinsGlnGlnLeu;Cys226delinsGlyLeuAlaGlnGlnLeuVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 715, "referenceAllele": "TAGCAC", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000407590.2:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.632_637delinsCAGCTGCT" }, "RefSeq": { "hgvs": "NM_001048174.2:c.632_637delinsCAGCTGCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val211AlafsTer28" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val211AlafsTer28" } } } }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 701, "referenceAllele": "TAGCAC", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*371_*376delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*371_*376delinsCAGCTGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 1615, "referenceAllele": "TAGCAC", "start": 1609 } ], "hgvs": [ "ENST00000671898.1:c.1220_1225delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Val407AlafsTer28", "hgvsWellDefined": "ENSP00000499896.1:p.[Val407Ala;Arg409_Leu411delinsAlaGlyCys;Arg413Ala;Arg415_Asp420delinsSerGluProLeuValLeuIle;Ser422_Thr424delinsAlaAlaPro;Val426_Trp431delinsPheProSerSerSer;Leu433_Leu437del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 1244, "referenceAllele": "TAGCAC", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.600_605delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Thr202CysfsTer?", "hgvsWellDefined": "ENSP00000500418.1:p.[Thr202delinsCysTrpValLeuCysArgValArgAlaIle;Val205Asp;Cys207_Pro208delinsSerSerThrLeuVal;His210delinsGlnGlnLeu;Cys212delinsGlyLeuAlaGlnGlnLeuVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 1767, "referenceAllele": "TAGCAC", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000500828.1:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 1194, "referenceAllele": "TAGCAC", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*605_*610delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*605_*610delinsCAGCTGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 711, "referenceAllele": "TAGCAC", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.591_596delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Thr199CysfsTer?", "hgvsWellDefined": "ENSP00000500886.1:p.[Thr199delinsCysTrpValLeuCysArgValArgAlaIle;Val202Asp;Cys204_Pro205delinsSerSerThrLeuVal;His207delinsGlnGlnLeu;Cys209delinsGlyLeuAlaGlnGlnLeuVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 846, "referenceAllele": "TAGCAC", "start": 840 } ], "gene": 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"gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.660_665delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.660_665delinsCAGCTGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 751, "referenceAllele": "TAGCAC", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.635_640delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Val212AlafsTer28", "hgvsWellDefined": "ENSP00000346354.6:p.[Val212Ala;Arg214_Leu216delinsAlaGlyCys;Arg218Ala;Arg220_Asp225delinsSerGluProLeuValLeuIle;Ser227_Thr229delinsAlaAlaPro;Val231_Trp236delinsPheProSerSerSer;Leu238_Leu242del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 783, "referenceAllele": "TAGCAC", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000347685.2:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 846, "referenceAllele": "TAGCAC", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.707_712delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Val236AlafsTer28", "hgvsWellDefined": "ENSP00000361170.3:p.[Val236Ala;Arg238_Leu240delinsAlaGlyCys;Arg242Ala;Arg244_Asp249delinsSerGluProLeuValLeuIle;Ser251_Thr253delinsAlaAlaPro;Val255_Trp260delinsPheProSerSerSer;Leu262_Leu266del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 830, "referenceAllele": "TAGCAC", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Val211AlafsTer28", "hgvsWellDefined": "ENSP00000361176.1:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 816, "referenceAllele": "TAGCAC", "start": 810 } ], "gene": 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"referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 983, "referenceAllele": "TAGCAC", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.116_121delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Val39AlafsTer28", "hgvsWellDefined": "XP_024303018.1:p.[Val39Ala;Arg41_Leu43delinsAlaGlyCys;Arg45Ala;Arg47_Asp52delinsSerGluProLeuValLeuIle;Ser54_Thr56delinsAlaAlaPro;Val58_Trp63delinsPheProSerSerSer;Leu65_Leu69del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 617, "referenceAllele": "TAGCAC", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.116_121delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Val39AlafsTer28", "hgvsWellDefined": 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"geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Val211AlafsTer28", "hgvsWellDefined": "NP_001041636.2:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 907, "referenceAllele": "TAGCAC", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.716_721delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val239AlafsTer28", "hgvsWellDefined": "NP_001121897.1:p.[Val239Ala;Arg241_Leu243delinsAlaGlyCys;Arg245Ala;Arg247_Asp252delinsSerGluProLeuValLeuIle;Ser254_Thr256delinsAlaAlaPro;Val258_Trp263delinsPheProSerSerSer;Leu265_Leu269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.716_721delinsCAGCTGCT" }, "RefSeq": { "hgvs": "NM_001128425.2:c.716_721delinsCAGCTGCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val239AlafsTer28" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val239AlafsTer28" } } } }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 791, "referenceAllele": "TAGCAC", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.635_640delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val212AlafsTer28", "hgvsWellDefined": "NP_001041637.1:p.[Val212Ala;Arg214_Leu216delinsAlaGlyCys;Arg218Ala;Arg220_Asp225delinsSerGluProLeuValLeuIle;Ser227_Thr229delinsAlaAlaPro;Val231_Trp236delinsPheProSerSerSer;Leu238_Leu242del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 788, "referenceAllele": "TAGCAC", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val211AlafsTer28", "hgvsWellDefined": "NP_001041638.1:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 715, "referenceAllele": "TAGCAC", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.632_637delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val211AlafsTer28", "hgvsWellDefined": "NP_001041639.1:p.[Val211Ala;Arg213_Leu215delinsAlaGlyCys;Arg217Ala;Arg219_Asp224delinsSerGluProLeuValLeuIle;Ser226_Thr228delinsAlaAlaPro;Val230_Trp235delinsPheProSerSerSer;Leu237_Leu241del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.632_637delinsCAGCTGCT" }, "RefSeq": { "hgvs": "NM_001048174.2:c.632_637delinsCAGCTGCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val211AlafsTer28" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val211AlafsTer28" } } } }, { "coordinates": [ { "allele": "CAGCTGCT", "end": 868, "referenceAllele": "TAGCAC", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.677_682delinsCAGCTGCT" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val226AlafsTer28", "hgvsWellDefined": 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