{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212898",
  "communityStandardTitle": [
    "NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23589[alleleid]",
        "alleleId": 23589,
        "preferredName": "NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8550",
        "RCV": [
          "RCV001582471",
          "RCV002051615",
          "RCV002321475"
        ],
        "variationId": 8550
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-32052343-CTT-C",
        "id": "6-32052343-CTT-C",
        "variant": "6:32052343 CTT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32052344_32052345del?assembly=hg19",
        "id": "chr6:g.32052344_32052345del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32084568_32084569del?assembly=hg38",
        "id": "chr6:g.32084568_32084569del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32084567_32084568del?assembly=hg38",
        "id": "chr6:g.32084567_32084568del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764070148",
        "rs": 764070148
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32052343-CTT-C?dataset=gnomad_r2_1",
        "id": "6-32052343-CTT-C",
        "variant": "6:32052343 CTT / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32084566-CTT-C?dataset=gnomad_r3",
        "id": "6-32084566-CTT-C",
        "variant": "6:32084566 CTT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32084566-CTT-C?dataset=gnomad_r4",
        "id": "6-32084566-CTT-C",
        "variant": "6:32084566 CTT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 32084569,
          "referenceAllele": "TT",
          "start": 32084567
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32084568_32084569del",
        "CM000668.2:g.32084568_32084569del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 32052346,
          "referenceAllele": "TT",
          "start": 32052344
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32052345_32052346del",
        "CM000668.1:g.32052345_32052346del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 32160324,
          "referenceAllele": "TT",
          "start": 32160322
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32160323_32160324del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 29808,
          "referenceAllele": "AA",
          "start": 29806
        }
      ],
      "hgvs": [
        "NG_008337.2:g.29807_29808del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001038"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3457,
          "referenceAllele": "AA",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000644971.2:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496448.1:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644971.2:c.3290_3291del"
          },
          "RefSeq": {
            "hgvs": "NM_001365276.2:c.3290_3291del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496448.1:p.Lys1097ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001352205.1:p.Lys1097ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4192,
          "referenceAllele": "AA",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000647633.1:c.4031_4032del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497649.1:p.Lys1344ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769522"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3493,
          "referenceAllele": "AA",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000375244.7:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364393.3:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3552,
          "referenceAllele": "AA",
          "start": 3550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000613214.4:c.3551_3552del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480067.1:p.Lys1184ArgfsTer?",
        "hgvsWellDefined": "ENSP00000480067.1:p.[Lys1184_Asp1185del;Asp1187Gln;Gln1189_Glu1196delinsArgAlaAlaProGlyGlyAlaArg;Pro1198_Ser1206delinsArgThrProAlaLeuGlyArgHisHis;Asp1208del;Arg1211_Lys1214delinsSerTrpProGlnValGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401647"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3493,
          "referenceAllele": "AA",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.6:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3457,
          "referenceAllele": "AA",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_001365276.1:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352205.1:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524081"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3457,
          "referenceAllele": "AA",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.7:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3457,
          "referenceAllele": "AA",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_001365276.2:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352205.1:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644971.2:c.3290_3291del"
          },
          "RefSeq": {
            "hgvs": "NM_001365276.2:c.3290_3291del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496448.1:p.Lys1097ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001352205.1:p.Lys1097ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3457,
          "referenceAllele": "AA",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.8:c.3290_3291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Lys1097ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698142"
    }
  ],
  "type": "nucleotide"
}