{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139942546",
  "communityStandardTitle": [
    "NM_007348.4(ATF6):c.*4604G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2499846",
        "rs": 2499846
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 161963258,
          "referenceAllele": "G",
          "start": 161963257
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161963258G=",
        "CM000663.2:g.161963258G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 161933048,
          "referenceAllele": "G",
          "start": 161933047
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161933048G=",
        "CM000663.1:g.161933048G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 160199672,
          "referenceAllele": "G",
          "start": 160199671
        }
      ],
      "hgvs": [
        "NC_000001.9:g.160199672G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202015,
          "referenceAllele": "G",
          "start": 202014
        }
      ],
      "hgvs": [
        "NG_029773.1:g.202015G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6658,
          "referenceAllele": "G",
          "start": 6657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "ENST00000367942.4:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356919.3:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367942.4:c.*4604G="
          },
          "RefSeq": {
            "hgvs": "NM_007348.4:c.*4604G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356919.3:n.*4604G="
          },
          "RefSeq": {
            "hgvs": "NP_031374.2:n.*4604G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "endIntronDirection": "+",
          "endIntronOffset": 4548,
          "referenceAllele": "G",
          "start": 2119,
          "startIntronDirection": "+",
          "startIntronOffset": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "ENST00000681738.1:c.*56+4548G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505025.1:n.*56+4548G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "endIntronDirection": "+",
          "endIntronOffset": 4548,
          "referenceAllele": "G",
          "start": 2119,
          "startIntronDirection": "+",
          "startIntronOffset": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "ENST00000681801.1:c.*56+4548G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505998.1:n.*56+4548G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6684,
          "referenceAllele": "G",
          "start": 6683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "ENST00000367942.3:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356919.3:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6734,
          "referenceAllele": "G",
          "start": 6733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "NM_007348.3:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "NP_031374.2:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6655,
          "referenceAllele": "G",
          "start": 6654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "XM_006711224.1:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711287.1:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "XM_011509308.1:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507610.1:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6712,
          "referenceAllele": "G",
          "start": 6711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "XM_011509309.1:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507611.1:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6658,
          "referenceAllele": "G",
          "start": 6657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "NM_007348.4:c.*4604G="
      ],
      "proteinEffect": {
        "hgvs": "NP_031374.2:n.*4604G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667859",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367942.4:c.*4604G="
          },
          "RefSeq": {
            "hgvs": "NM_007348.4:c.*4604G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356919.3:n.*4604G="
          },
          "RefSeq": {
            "hgvs": "NP_031374.2:n.*4604G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}