{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044140",
  "communityStandardTitle": [
    "NM_000458.4(HNF1B):c.1132dup (p.Gln378ProfsTer22)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226090[alleleid]",
        "alleleId": 226090,
        "preferredName": "NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224334",
        "RCV": [
          "RCV000416588"
        ],
        "variationId": 224334
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.36070585dupG?assembly=hg19",
        "id": "chr17:g.36070585dupG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.36070584_36070585insG?assembly=hg19",
        "id": "chr17:g.36070584_36070585insG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.37710577dupG?assembly=hg38",
        "id": "chr17:g.37710577dupG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.37710576_37710577insG?assembly=hg38",
        "id": "chr17:g.37710576_37710577insG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519371",
        "rs": 1057519371
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37710578,
          "referenceAllele": "",
          "start": 37710578
        }
      ],
      "hgvs": [
        "NC_000017.11:g.37710578dup",
        "CM000679.2:g.37710578dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 36070586,
          "referenceAllele": "",
          "start": 36070586
        }
      ],
      "hgvs": [
        "NC_000017.10:g.36070586dup",
        "CM000679.1:g.36070586dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 33144699,
          "referenceAllele": "",
          "start": 33144699
        }
      ],
      "hgvs": [
        "NC_000017.9:g.33144699dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39530,
          "referenceAllele": "",
          "start": 39530
        }
      ],
      "hgvs": [
        "NG_013019.2:g.39530dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002666"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617811.5:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480291.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "ENSP00000480291.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617811.5:c.1132dup"
          },
          "RefSeq": {
            "hgvs": "NM_000458.4:c.1132dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480291.1:p.Gln378ProfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_000449.1:p.Gln378ProfsTer22"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000613727.4:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477524.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "ENSP00000477524.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "referenceAllele": "",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000614313.4:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482529.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "ENSP00000482529.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "referenceAllele": "",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617272.4:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478682.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "ENSP00000478682.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Asp403del;Ser405_Arg407delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617811.4:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480291.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "ENSP00000480291.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000621123.4:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482711.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "ENSP00000482711.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1326,
          "referenceAllele": "",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_000458.3:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000449.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "NP_000449.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001165923.3:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159395.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "NP_001159395.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001304286.1:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291215.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "NP_001291215.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525160.1:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523462.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "XP_011523462.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525161.1:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523463.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "XP_011523463.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525164.1:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523466.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "XP_011523466.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_000458.4:c.1132dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000449.1:p.Gln378ProfsTer22",
        "hgvsWellDefined": "NP_000449.1:p.[Gln378_Ser379delinsPro;Leu381_Val384delinsGlyPheThrAla;Pro386_Ala387delinsLeuPro;Leu389_Asp390delinsGln;His393_Leu396delinsProArgProGln;Asp399_Gly407delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662451",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617811.5:c.1132dup"
          },
          "RefSeq": {
            "hgvs": "NM_000458.4:c.1132dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480291.1:p.Gln378ProfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_000449.1:p.Gln378ProfsTer22"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001165923.4:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159395.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "NP_001159395.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001304286.2:c.1054dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291215.1:p.Gln352ProfsTer22",
        "hgvsWellDefined": "NP_001291215.1:p.[Gln352_Ser353delinsPro;Leu355_Val358delinsGlyPheThrAla;Pro360_Ala361delinsLeuPro;Leu363_Asp364delinsGln;His367_Leu370delinsProArgProGln;Asp373_Gly381delinsLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683637"
    }
  ],
  "type": "nucleotide"
}