{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1329211258",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.1069G= (p.Ala357=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/58898021",
        "rs": 58898021
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 219421385,
          "referenceAllele": "G",
          "start": 219421384
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219421385G=",
        "CM000664.2:g.219421385G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 220286107,
          "referenceAllele": "G",
          "start": 220286106
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220286107G=",
        "CM000664.1:g.220286107G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 219994351,
          "referenceAllele": "G",
          "start": 219994350
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219994351G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8009,
          "referenceAllele": "G",
          "start": 8008
        }
      ],
      "hgvs": [
        "NG_008043.1:g.8009G=",
        "LRG_380:g.8009G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.543G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000683013.1:n.457G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.1069G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Ala357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1069G="
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1069G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Ala357="
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Ala357="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.1069G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Ala357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.541G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000492726.1:n.464G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066512282",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.1069G=",
        "LRG_380t1:c.1069G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Ala357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066512282",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.1069G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Ala357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1069G="
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1069G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Ala357="
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Ala357="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.1066G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Ala356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 98,
          "referenceAllele": "G",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.736-99G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:n.736-99G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 1109,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.1024-24G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:n.1024-24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.1048G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Ala350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.1069G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Ala357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.799G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Ala267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}