{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140186609",
  "communityStandardTitle": [
    "NM_024686.6(TTLL7):c.1143-555A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10465746",
        "rs": 10465746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 83921949,
          "referenceAllele": "T",
          "start": 83921948
        }
      ],
      "hgvs": [
        "NC_000001.11:g.83921949T=",
        "CM000663.2:g.83921949T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 84387632,
          "referenceAllele": "T",
          "start": 84387631
        }
      ],
      "hgvs": [
        "NC_000001.10:g.84387632T=",
        "CM000663.1:g.84387632T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 84160220,
          "referenceAllele": "T",
          "start": 84160219
        }
      ],
      "hgvs": [
        "NC_000001.9:g.84160220T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1520,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000260505.13:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260505.8:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260505.13:c.1143-555A="
          },
          "RefSeq": {
            "hgvs": "NM_024686.6:c.1143-555A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260505.8:n.1143-555A="
          },
          "RefSeq": {
            "hgvs": "NP_078962.4:n.1143-555A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1520,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000260505.12:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260505.8:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000472688.5:n.1518-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 474,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000474957.5:c.198-555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434146.1:n.198-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1480,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000477524.5:n.1481-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1312,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000480174.5:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435334.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000482783.1:n.191-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1139,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000485638.5:c.795-555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432921.1:n.795-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000488014.5:n.1279-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1538,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1538,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "ENST00000610996.1:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484660.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1538,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1538,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_024686.4:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_078962.4:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1354,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1354,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_005271208.1:c.1062-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271265.1:n.1062-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_005271211.2:c.408-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271268.1:n.408-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_011542155.1:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540457.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 875,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_011542156.1:c.876-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540458.1:n.876-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_011542157.1:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540459.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_011542158.1:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540460.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_011542159.1:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540461.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_946758.1:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_946759.1:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_946760.1:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1600,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_001350214.1:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337143.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1374,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_001350215.1:c.1062-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337144.1:n.1062-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1575,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_024686.5:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_078962.4:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_011542159.3:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540461.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1312,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_017002349.2:c.408-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857838.1:n.408-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3625,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 3625,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XM_024449807.1:c.408-555A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305575.1:n.408-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737409.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737410.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737411.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737412.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737413.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737414.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_001737415.2:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_946758.3:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1434,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "XR_946760.3:n.1435-555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1520,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_024686.6:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_078962.4:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260505.13:c.1143-555A="
          },
          "RefSeq": {
            "hgvs": "NM_024686.6:c.1143-555A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260505.8:n.1143-555A="
          },
          "RefSeq": {
            "hgvs": "NP_078962.4:n.1143-555A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1545,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1545,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_001350214.2:c.1143-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337143.1:n.1143-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "endIntronDirection": "-",
          "endIntronOffset": 554,
          "referenceAllele": "A",
          "start": 1319,
          "startIntronDirection": "-",
          "startIntronOffset": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026242",
      "geneNCBI_id": 79739,
      "geneSymbol": "TTLL7",
      "hgvs": [
        "NM_001350215.2:c.1062-555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337144.1:n.1062-555A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688256"
    }
  ],
  "type": "nucleotide"
}