{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044153",
  "communityStandardTitle": [
    "NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227136[alleleid]",
        "alleleId": 227136,
        "preferredName": "NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225223",
        "RCV": [
          "RCV000416724",
          "RCV000760552"
        ],
        "variationId": 225223
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20763336C>A?assembly=hg19",
        "id": "chr13:g.20763336C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20189197C>A?assembly=hg38",
        "id": "chr13:g.20189197C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516875",
        "rs": 397516875
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 20189197,
          "referenceAllele": "C",
          "start": 20189196
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20189197C>A",
        "CM000675.2:g.20189197C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 20763336,
          "referenceAllele": "C",
          "start": 20763335
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20763336C>A",
        "CM000675.1:g.20763336C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 19661336,
          "referenceAllele": "C",
          "start": 19661335
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19661336C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8779,
          "referenceAllele": "G",
          "start": 8778
        }
      ],
      "hgvs": [
        "NG_008358.1:g.8779G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.2:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Glu129Ter",
        "hgvsWellDefined": "ENSP00000372295.1:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.5:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Glu129Ter",
        "hgvsWellDefined": "ENSP00000372299.4:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.385G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.385G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Glu129Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Glu129Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.1:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Glu129Ter",
        "hgvsWellDefined": "ENSP00000372295.1:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.4:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Glu129Ter",
        "hgvsWellDefined": "ENSP00000372299.4:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645385668",
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.5:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Glu129Ter",
        "hgvsWellDefined": "NP_003995.2:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.1:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Glu129Ter",
        "hgvsWellDefined": "XP_011533351.1:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.2:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Glu129Ter",
        "hgvsWellDefined": "XP_011533351.1:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645385668",
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.6:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Glu129Ter",
        "hgvsWellDefined": "NP_003995.2:p.Glu129_Val226delinsGlySerLeuTrpTrpThrTyrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.385G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.385G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Glu129Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Glu129Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}