{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA122601", "communityStandardTitle": [ "NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27679[alleleid]", "alleleId": 27679, "preferredName": "NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12640", "RCV": [ "RCV000013475", "RCV002496343", "RCV001328308", "RCV002472930" ], "variationId": 12640 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.36091805G>A?assembly=hg19", "id": "chr17:g.36091805G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.37731814G>A?assembly=hg38", "id": "chr17:g.37731814G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918672", "rs": 121918672 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { 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"http://reg.genome.network/allele/PA122602", "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "NM_000458.3:c.826C>T" ], "proteinEffect": { "hgvs": "NP_000449.1:p.Arg276Ter", "hgvsWellDefined": 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"NP_001159395.1:p.Arg250_Trp531delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014728" }, { "@id": "http://reg.genome.network/allele/PA2826888907", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "NM_001304286.1:c.748C>T" ], "proteinEffect": { "hgvs": "NP_001291215.1:p.Arg250Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS092280" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "XM_011525162.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011523464.1:p.Arg276Ter", "hgvsWellDefined": "XP_011523464.1:p.Arg276_Leu380delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValLeuTrpMetGluThrGluMetSerGlyArgSerSerSerLeuSerThrThrLeuGlnProGlyGluLeuGluGlyLeuHisProTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092281" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "XM_011525163.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011523465.1:p.Arg276Ter", "hgvsWellDefined": "XP_011523465.1:p.Arg276_Cys353delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyThrValCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092282" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "XM_011525164.1:c.748C>T" ], "proteinEffect": { "hgvs": "XP_011523466.1:p.Arg250Ter", "hgvsWellDefined": "XP_011523466.1:p.Arg250_Gln522delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092283" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "XM_011525162.2:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011523464.1:p.Arg276Ter", "hgvsWellDefined": "XP_011523464.1:p.Arg276_Leu380delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValLeuTrpMetGluThrGluMetSerGlyArgSerSerSerLeuSerThrThrLeuGlnProGlyGluLeuGluGlyLeuHisProTyrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547760" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "XM_011525163.2:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011523465.1:p.Arg276Ter", "hgvsWellDefined": "XP_011523465.1:p.Arg276_Cys353delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyThrValCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547761" }, { "@id": "http://reg.genome.network/allele/PA122602", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "NM_000458.4:c.826C>T" ], "proteinEffect": { "hgvs": "NP_000449.1:p.Arg276Ter", "hgvsWellDefined": "NP_000449.1:p.Arg276_Trp557delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662451", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000617811.5:c.826C>T" }, "RefSeq": { "hgvs": "NM_000458.4:c.826C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000480291.1:p.Arg276Ter" }, "RefSeq": { "hgvs": "NP_000449.1:p.Arg276Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826006763", "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "NM_001165923.4:c.748C>T" ], "proteinEffect": { "hgvs": "NP_001159395.1:p.Arg250Ter", "hgvsWellDefined": "NP_001159395.1:p.Arg250_Trp531delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678431" }, { "@id": "http://reg.genome.network/allele/PA2826888907", "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN011630", "geneNCBI_id": 6928, "geneSymbol": "HNF1B", "hgvs": [ "NM_001304286.2:c.748C>T" ], "proteinEffect": { "hgvs": "NP_001291215.1:p.Arg250Ter", "hgvsWellDefined": "NP_001291215.1:p.Arg250_Gln457delinsGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683637" } ], "type": "nucleotide" }