{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2004763683",
  "communityStandardTitle": [
    "NM_005422.4(TECTA):c.6163-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876657661",
        "rs": 876657661
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121189078,
          "referenceAllele": "A",
          "start": 121189077
        }
      ],
      "hgvs": [
        "NC_000011.10:g.121189078A=",
        "CM000673.2:g.121189078A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121059787,
          "referenceAllele": "A",
          "start": 121059786
        }
      ],
      "hgvs": [
        "NC_000011.9:g.121059787A=",
        "CM000673.1:g.121059787A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 120564997,
          "referenceAllele": "A",
          "start": 120564996
        }
      ],
      "hgvs": [
        "NC_000011.8:g.120564997A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91413,
          "referenceAllele": "A",
          "start": 91412
        }
      ],
      "hgvs": [
        "NG_011633.1:g.91413A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6363,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6363,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000392793.6:c.6163-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376543.1:n.6163-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.6163-2A="
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.6163-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:n.6163-2A="
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:n.6163-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6212,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6212,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000642222.1:c.6148-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493855.1:n.6148-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3454,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3454,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000645008.1:c.3455-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2542,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000646278.1:n.2543-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6162,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6162,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000264037.2:c.6163-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264037.2:n.6163-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6433,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6433,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000392793.5:c.6163-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376543.1:n.6163-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6162,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6162,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.2:c.6163-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005413.2:n.6163-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7311,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 7311,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054857",
      "geneNCBI_id": 116804918,
      "geneSymbol": "TBCEL-TECTA",
      "hgvs": [
        "NM_001378761.1:c.7105-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365690.1:n.7105-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6363,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6363,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.4:c.6163-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005413.2:n.6163-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.6163-2A="
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.6163-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:n.6163-2A="
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:n.6163-2A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}