{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2269943934",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.1922-288C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4316",
        "rs": 4316
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 63484948,
          "referenceAllele": "C",
          "start": 63484947
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63484948C=",
        "CM000679.2:g.63484948C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 61562309,
          "referenceAllele": "C",
          "start": 61562308
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61562309C=",
        "CM000679.1:g.61562309C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 58916041,
          "referenceAllele": "C",
          "start": 58916040
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58916041C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12876,
          "referenceAllele": "C",
          "start": 12875
        }
      ],
      "hgvs": [
        "NG_011648.1:g.12876C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.1922-288C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:n.1922-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1922-288C="
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1922-288C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:n.1922-288C="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:n.1922-288C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290863.10:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290863.6:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1945,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1945,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.1922-288C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:n.1922-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000413513.7:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392247.3:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.1922-288C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:n.1922-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "hgvs": [
        "ENST00000577647.2:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464149.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000578839.5:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462110.2:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81,
          "referenceAllele": "C",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579204.1:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464629.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579314.5:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462599.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 204,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579726.5:c.205-22C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105,
          "referenceAllele": "C",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582005.5:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462002.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1861,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1861,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582678.5:c.*1321-288C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462995.1:n.*1321-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.1922-288C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:n.1922-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826135397",
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.1:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830296296",
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.2:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1861,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1861,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.1373-288C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:n.1373-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.2:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:p.Gln80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.3:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:p.Gln80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.1922-288C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:n.1922-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1922-288C="
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1922-288C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:n.1922-288C="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:n.1922-288C="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826135397",
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.2:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830296296",
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.3:c.81C="
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1623,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.1355-288C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:n.1355-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.1070-288C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:n.1070-288C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382702.1:c.-171C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369631.1:n.-171C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NR_168483.1:n.103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732030"
    }
  ],
  "type": "nucleotide"
}