{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214284",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.169del (p.Leu57TrpfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45470[alleleid]",
        "alleleId": 45470,
        "preferredName": "NM_000545.8(HNF1A):c.169del (p.Leu57fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36809",
        "RCV": [
          "RCV000030489",
          "RCV002222003",
          "RCV002326703"
        ],
        "variationId": 36809
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121416740del?assembly=hg19",
        "id": "chr12:g.121416740del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.120978937del?assembly=hg38",
        "id": "chr12:g.120978937del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922588",
        "rs": 193922588
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 120978937,
          "referenceAllele": "C",
          "start": 120978936
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120978937del",
        "CM000674.2:g.120978937del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 121416740,
          "referenceAllele": "C",
          "start": 121416739
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121416740del",
        "CM000674.1:g.121416740del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 119901123,
          "referenceAllele": "C",
          "start": 119901122
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119901123del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5192,
          "referenceAllele": "C",
          "start": 5191
        }
      ],
      "hgvs": [
        "NG_011731.2:g.5192del",
        "LRG_522:g.5192del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000453965.2:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000257555.5:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.169del"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.169del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Leu57TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Leu57TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000257555.4:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000400024.6:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476181.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000476181.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278883"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000402929.5:n.304del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279670"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 42,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "C",
          "start": 42,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000535955.5:n.42+245del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 97,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538626.2:n.190+97del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538646.5:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443964.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000443964.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361433"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000445445.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000443112.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541924.5:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440361.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000440361.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000439721.2:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000438804.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 97,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544574.5:c.72+97del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438565.1:n.72+97del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364644"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.312del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 226,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.-258+226del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:n.-258+226del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "ENSP00000481967.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.169del",
        "LRG_522t1:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "NP_000536.5:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "NP_000536.5:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "NP_001293108.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "XP_005253988.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "XP_024304936.1:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "NP_000536.6:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.169del"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.169del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Leu57TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Leu57TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Leu57TrpfsTer?",
        "hgvsWellDefined": "NP_001293108.2:p.[Leu57_Leu60delinsTrpLeuSerCys;Asn62Met;Leu64Trp;Glu66_Asp77delinsArgLeuGlyAlaProArgThrArgArgThrThrMet;Glu79_Pro83delinsLysThrSerArgHis;Ile85_Leu86delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    }
  ],
  "type": "nucleotide"
}