{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341604",
  "communityStandardTitle": [
    "NM_000166.6(GJB1):c.225del (p.Leu76CysfsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33935[alleleid]",
        "alleleId": 33935,
        "preferredName": "NM_000166.6(GJB1):c.225del (p.Leu76fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21083",
        "RCV": [
          "RCV000020173",
          "RCV000789840"
        ],
        "variationId": 21083
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-70443780-CG-C",
        "id": "X-70443780-CG-C",
        "variant": "X:70443780 CG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70443782del?assembly=hg19",
        "id": "chrX:g.70443782del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70443781del?assembly=hg19",
        "id": "chrX:g.70443781del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.71223932del?assembly=hg38",
        "id": "chrX:g.71223932del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.71223931del?assembly=hg38",
        "id": "chrX:g.71223931del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840820",
        "rs": 116840820
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-70443780-CG-C?dataset=gnomad_r2_1",
        "id": "X-70443780-CG-C",
        "variant": "X:70443780 CG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 71223932,
          "referenceAllele": "G",
          "start": 71223931
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71223932del",
        "CM000685.2:g.71223932del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 70443782,
          "referenceAllele": "G",
          "start": 70443781
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70443782del",
        "CM000685.1:g.70443782del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 70360507,
          "referenceAllele": "G",
          "start": 70360506
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70360507del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13721,
          "referenceAllele": "G",
          "start": 13720
        }
      ],
      "hgvs": [
        "NG_008357.1:g.13721del",
        "LRG_245:g.13721del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000361726.7:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354900.6:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000354900.6:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361726.7:c.225del"
          },
          "RefSeq": {
            "hgvs": "NM_000166.6:c.225del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354900.6:p.Leu76CysfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000157.1:p.Leu76CysfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000374029.2:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363141.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000363141.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000447581.2:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407223.2:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000407223.2:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000645009.2:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494142.2:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000494142.2:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768120"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000646835.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494596.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000494596.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000647424.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495960.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000495960.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000674549.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502766.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000502766.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774501"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000674844.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502556.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000502556.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774745"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000675209.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501813.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000501813.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775062"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000675368.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501757.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000501757.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775198"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000675609.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501571.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000501571.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000361726.6:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354900.6:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000354900.6:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000374022.3:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363134.3:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000363134.3:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000374029.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363141.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000363141.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000447581.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407223.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "ENSP00000407223.1:p.Leu76_Val84delinsCysGlyProCysSerSerSer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299315"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_000166.5:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000157.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "NP_000157.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_001097642.2:c.225del",
        "LRG_245t1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091111.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "NP_001091111.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010544"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "XM_011530907.1:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529209.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "XP_011529209.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "XM_011530907.2:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529209.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "XP_011529209.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_000166.6:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000157.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "NP_000157.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361726.7:c.225del"
          },
          "RefSeq": {
            "hgvs": "NM_000166.6:c.225del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354900.6:p.Leu76CysfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000157.1:p.Leu76CysfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_001097642.3:c.225del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091111.1:p.Leu76CysfsTer8",
        "hgvsWellDefined": "NP_001091111.1:p.[Leu76_Val84delinsCysGlyProCysSerSer;Thr86_Met105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711896"
    }
  ],
  "type": "nucleotide"
}