{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043791",
  "communityStandardTitle": [
    "NM_005422.4(TECTA):c.2359del (p.Glu787LysfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361436[alleleid]",
        "alleleId": 361436,
        "preferredName": "NM_005422.4(TECTA):c.2359del (p.Glu787fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374550",
        "RCV": [
          "RCV000415973",
          "RCV001375376"
        ],
        "variationId": 374550
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.120999044del?assembly=hg19",
        "id": "chr11:g.120999044del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121128335del?assembly=hg38",
        "id": "chr11:g.121128335del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519150",
        "rs": 1057519150
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 121128336,
          "referenceAllele": "G",
          "start": 121128335
        }
      ],
      "hgvs": [
        "NC_000011.10:g.121128336del",
        "CM000673.2:g.121128336del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 120999045,
          "referenceAllele": "G",
          "start": 120999044
        }
      ],
      "hgvs": [
        "NC_000011.9:g.120999045del",
        "CM000673.1:g.120999045del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 120504255,
          "referenceAllele": "G",
          "start": 120504254
        }
      ],
      "hgvs": [
        "NC_000011.8:g.120504255del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30671,
          "referenceAllele": "G",
          "start": 30670
        }
      ],
      "hgvs": [
        "NG_011633.1:g.30671del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000392793.6:c.2359del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376543.1:p.Glu787LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.2359del"
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.2359del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:p.Glu787LysfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:p.Glu787LysfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2424,
          "referenceAllele": "G",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000642222.1:c.2359del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493855.1:p.Glu787LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000264037.2:c.2359del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264037.2:p.Glu787LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251404"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2630,
          "referenceAllele": "G",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000392793.5:c.2359del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376543.1:p.Glu787LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275289"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.2:c.2359del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005413.2:p.Glu787LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3523,
          "referenceAllele": "G",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054857",
      "geneNCBI_id": 116804918,
      "geneSymbol": "TBCEL-TECTA",
      "hgvs": [
        "NM_001378761.1:c.3316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365690.1:p.Glu1106LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.4:c.2359del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005413.2:p.Glu787LysfsTer4"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.2359del"
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.2359del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:p.Glu787LysfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:p.Glu787LysfsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}