{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273574",
  "communityStandardTitle": [
    "NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423SerfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175947[alleleid]",
        "alleleId": 175947,
        "preferredName": "NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178970",
        "RCV": [
          "RCV000155747"
        ],
        "variationId": 178970
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.76964704_76964708del?assembly=hg19",
        "id": "chr14:g.76964704_76964708del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.76498361_76498365del?assembly=hg38",
        "id": "chr14:g.76498361_76498365del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504577",
        "rs": 727504577
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 76498365,
          "referenceAllele": "CGGCC",
          "start": 76498360
        }
      ],
      "hgvs": [
        "NC_000014.9:g.76498361_76498365del",
        "CM000676.2:g.76498361_76498365del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 76964708,
          "referenceAllele": "CGGCC",
          "start": 76964703
        }
      ],
      "hgvs": [
        "NC_000014.8:g.76964704_76964708del",
        "CM000676.1:g.76964704_76964708del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 76034461,
          "referenceAllele": "CGGCC",
          "start": 76034456
        }
      ],
      "hgvs": [
        "NC_000014.7:g.76034457_76034461del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 132019,
          "referenceAllele": "CGGCC",
          "start": 132014
        }
      ],
      "hgvs": [
        "NG_012278.1:g.132015_132019del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002337"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 132019,
          "referenceAllele": "CGGCC",
          "start": 132014
        }
      ],
      "hgvs": [
        "NG_012278.2:g.132015_132019del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673593"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1580,
          "referenceAllele": "CGGCC",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000380887.7:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370270.2:p.Thr402SerfsTer9",
        "hgvsWellDefined": "ENSP00000370270.2:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1546,
          "referenceAllele": "CGGCC",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000505752.6:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423004.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "ENSP00000423004.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Ala433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1427,
          "referenceAllele": "CGGCC",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000512784.6:c.1220_1224del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424992.2:p.Thr407SerfsTer9",
        "hgvsWellDefined": "ENSP00000424992.2:p.[Thr407_Tyr416del;Val418_Leu420del;Lys423_Lys428delinsArgAlaAla;Phe430del;Glu432Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1537,
          "referenceAllele": "CGGCC",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000644823.1:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493776.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "ENSP00000493776.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644823.1:c.1268_1272del"
          },
          "RefSeq": {
            "hgvs": "NM_001379180.1:c.1268_1272del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493776.1:p.Thr423SerfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_001366109.1:p.Thr423SerfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1307,
          "referenceAllele": "CGGCC",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000380887.6:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370270.2:p.Thr402SerfsTer9",
        "hgvsWellDefined": "ENSP00000370270.2:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1783,
          "referenceAllele": "CGGCC",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000505752.5:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423004.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "ENSP00000423004.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Ala433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1417,
          "referenceAllele": "CGGCC",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000509242.5:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422488.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "ENSP00000422488.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340047"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1525,
          "referenceAllele": "CGGCC",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000512784.5:c.1220_1224del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424992.1:p.Thr407SerfsTer9",
        "hgvsWellDefined": "ENSP00000424992.1:p.[Thr407_Tyr416del;Val418_Leu420del;Lys423_Lys428delinsArgAlaAla;Phe430del;Glu432_Val438del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342695"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1281,
          "referenceAllele": "CGGCC",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "ENST00000556177.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451658.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "ENSP00000451658.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1580,
          "referenceAllele": "CGGCC",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "NM_004452.3:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004443.3:p.Thr402SerfsTer9",
        "hgvsWellDefined": "NP_004443.3:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1518,
          "referenceAllele": "CGGCC",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_005267404.2:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267461.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_005267461.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065397"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1517,
          "referenceAllele": "CGGCC",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536547.1:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534849.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_011534849.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Val454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1628,
          "referenceAllele": "CGGCC",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536548.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534850.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_011534850.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103533"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1390,
          "referenceAllele": "CGGCC",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536549.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534851.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_011534851.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103534"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1566,
          "referenceAllele": "CGGCC",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536550.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534852.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_011534852.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103535"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1360,
          "referenceAllele": "CGGCC",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536551.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534853.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_011534853.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1427,
          "referenceAllele": "CGGCC",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536552.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534854.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_011534854.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103537"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1518,
          "referenceAllele": "CGGCC",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536553.1:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534855.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_011534855.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Ala454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1518,
          "referenceAllele": "CGGCC",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536554.1:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534856.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_011534856.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Val454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103539"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 839,
          "referenceAllele": "CGGCC",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536555.1:c.527_531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534857.1:p.Thr176SerfsTer9",
        "hgvsWellDefined": "XP_011534857.1:p.[Thr176_Tyr185del;Val187_Leu189del;Lys192_Lys197delinsArgAlaAla;Phe199del;Glu201_Val207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1519,
          "referenceAllele": "CGGCC",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XR_943401.1:n.1515_1519del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137466"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 144,
          "endIntronDirection": "+",
          "endIntronOffset": 3796,
          "referenceAllele": "GGCCG",
          "start": 144,
          "startIntronDirection": "+",
          "startIntronOffset": 3791
        }
      ],
      "hgvs": [
        "XR_944039.1:n.144+3792_144+3796del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138035"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1742,
          "referenceAllele": "CGGCC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536547.2:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534849.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_011534849.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Val454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552537"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1816,
          "referenceAllele": "CGGCC",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536550.2:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534852.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_011534852.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1742,
          "referenceAllele": "CGGCC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536553.2:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534855.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_011534855.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Ala454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552539"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1742,
          "referenceAllele": "CGGCC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_011536554.2:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534856.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_011534856.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Val454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1387,
          "referenceAllele": "CGGCC",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_017021085.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876574.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_016876574.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1742,
          "referenceAllele": "CGGCC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_024449508.1:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305276.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "XP_024305276.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448_Ala454del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583057"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1389,
          "referenceAllele": "CGGCC",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XM_024449509.1:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305277.1:p.Thr402SerfsTer9",
        "hgvsWellDefined": "XP_024305277.1:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1742,
          "referenceAllele": "CGGCC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XR_001750189.1:n.1738_1742del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1742,
          "referenceAllele": "CGGCC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "XR_943401.2:n.1738_1742del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1537,
          "referenceAllele": "CGGCC",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "NM_001379180.1:c.1268_1272del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366109.1:p.Thr423SerfsTer9",
        "hgvsWellDefined": "NP_001366109.1:p.[Thr423_Tyr432del;Val434_Leu436del;Lys439_Lys444delinsArgAlaAla;Phe446del;Glu448Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721928",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644823.1:c.1268_1272del"
          },
          "RefSeq": {
            "hgvs": "NM_001379180.1:c.1268_1272del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493776.1:p.Thr423SerfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_001366109.1:p.Thr423SerfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1656,
          "referenceAllele": "CGGCC",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003473",
      "geneNCBI_id": 2103,
      "geneSymbol": "ESRRB",
      "hgvs": [
        "NM_004452.4:c.1205_1209del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004443.3:p.Thr402SerfsTer9",
        "hgvsWellDefined": "NP_004443.3:p.[Thr402_Tyr411del;Val413_Leu415del;Lys418_Lys423delinsArgAlaAla;Phe425del;Glu427_Val433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727506"
    }
  ],
  "type": "nucleotide"
}