{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2450541928",
  "communityStandardTitle": [
    "NM_033641.4(COL4A6):c.5071T= (p.Ter1691=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769211787",
        "rs": 769211787
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 108157002,
          "referenceAllele": "A",
          "start": 108157001
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108157002A=",
        "CM000685.2:g.108157002A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 107400232,
          "referenceAllele": "A",
          "start": 107400231
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107400232A=",
        "CM000685.1:g.107400232A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 107286888,
          "referenceAllele": "A",
          "start": 107286887
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107286888A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287473,
          "referenceAllele": "T",
          "start": 287472
        }
      ],
      "hgvs": [
        "NG_012059.2:g.287473T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002144"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5297,
          "referenceAllele": "T",
          "start": 5296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000334504.12:c.5071T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334733.7:p.Ter1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334504.12:c.5071T="
          },
          "RefSeq": {
            "hgvs": "NM_033641.4:c.5071T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334733.7:p.Ter1691="
          },
          "RefSeq": {
            "hgvs": "NP_378667.1:p.Ter1691="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5305,
          "referenceAllele": "T",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000334504.11:c.5071T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334733.7:p.Ter1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5175,
          "referenceAllele": "T",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000372216.8:c.5074T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361290.4:p.Ter1692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5356,
          "referenceAllele": "T",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000394872.6:c.5122T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378340.3:p.Ter1708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5134,
          "referenceAllele": "T",
          "start": 5133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000538570.5:c.4900T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445236.1:p.Ter1634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5269,
          "referenceAllele": "T",
          "start": 5268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000545689.2:c.5035T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443707.2:p.Ter1679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5233,
          "referenceAllele": "T",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "ENST00000621266.4:c.4999T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482970.1:p.Ter1667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5356,
          "referenceAllele": "T",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001287758.1:c.5122T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274687.1:p.Ter1708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5233,
          "referenceAllele": "T",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001287759.1:c.4999T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274688.1:p.Ter1667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5134,
          "referenceAllele": "T",
          "start": 5133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001287760.1:c.4900T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274689.1:p.Ter1634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5200,
          "referenceAllele": "T",
          "start": 5199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001847.3:c.5074T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001838.2:p.Ter1692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063258238",
      "coordinates": [
        {
          "allele": "T",
          "end": 5305,
          "referenceAllele": "T",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_033641.3:c.5071T="
      ],
      "proteinEffect": {
        "hgvs": "NP_378667.1:p.Ter1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5242,
          "referenceAllele": "T",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "XM_006724617.2:c.5125T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724680.1:p.Ter1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5170,
          "referenceAllele": "T",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "XM_011530852.1:c.5053T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529154.1:p.Ter1685="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5121,
          "referenceAllele": "T",
          "start": 5120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "XM_011530853.1:c.5041T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529155.1:p.Ter1681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5245,
          "referenceAllele": "T",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "XM_006724617.3:c.5125T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724680.1:p.Ter1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5173,
          "referenceAllele": "T",
          "start": 5172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "XM_011530852.2:c.5053T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529154.1:p.Ter1685="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5968,
          "referenceAllele": "T",
          "start": 5967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "XM_011530853.3:c.5041T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529155.1:p.Ter1681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5161,
          "referenceAllele": "T",
          "start": 5160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001847.4:c.5074T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001838.2:p.Ter1692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063258238",
      "coordinates": [
        {
          "allele": "T",
          "end": 5297,
          "referenceAllele": "T",
          "start": 5296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_033641.4:c.5071T="
      ],
      "proteinEffect": {
        "hgvs": "NP_378667.1:p.Ter1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334504.12:c.5071T="
          },
          "RefSeq": {
            "hgvs": "NM_033641.4:c.5071T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334733.7:p.Ter1691="
          },
          "RefSeq": {
            "hgvs": "NP_378667.1:p.Ter1691="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5348,
          "referenceAllele": "T",
          "start": 5347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001287758.2:c.5122T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274687.1:p.Ter1708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5225,
          "referenceAllele": "T",
          "start": 5224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001287759.2:c.4999T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274688.1:p.Ter1667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5126,
          "referenceAllele": "T",
          "start": 5125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NM_001287760.2:c.4900T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274689.1:p.Ter1634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716427"
    }
  ],
  "type": "nucleotide"
}