{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2269944601",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.2059-460A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4329",
        "rs": 4329
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 63486097,
          "referenceAllele": "A",
          "start": 63486096
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63486097A=",
        "CM000679.2:g.63486097A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 61563458,
          "referenceAllele": "A",
          "start": 61563457
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61563458A=",
        "CM000679.1:g.61563458A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 58917190,
          "referenceAllele": "A",
          "start": 58917189
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58917190A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14025,
          "referenceAllele": "A",
          "start": 14024
        }
      ],
      "hgvs": [
        "NG_011648.1:g.14025A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 2092,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.2059-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:n.2059-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.2059-460A="
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.2059-460A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:n.2059-460A="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:n.2059-460A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290863.10:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290863.6:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2082,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 2082,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.2059-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:n.2059-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000413513.7:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392247.3:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 2092,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.2059-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:n.2059-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 381,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "hgvs": [
        "ENST00000577647.2:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464149.1:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000578839.5:c.*129-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462110.2:n.*129-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 239,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579204.1:c.240-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464629.1:n.240-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579314.5:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462599.1:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "endIntronDirection": "-",
          "endIntronOffset": 261,
          "referenceAllele": "A",
          "start": 607,
          "startIntronDirection": "-",
          "startIntronOffset": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579726.5:c.608-262A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "endIntronDirection": "-",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 360,
          "startIntronDirection": "-",
          "startIntronOffset": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582005.5:c.337-195A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462002.1:n.337-195A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 2092,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.2059-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:n.2059-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.1:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.2:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 1998,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.1510-460A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:n.1510-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.2:c.397-460A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:n.397-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.3:c.397-460A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:n.397-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 2092,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.2059-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:n.2059-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.2059-460A="
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.2059-460A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:n.2059-460A="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:n.2059-460A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.2:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.3:c.337-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:n.337-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 1760,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.1492-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:n.1492-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 1854,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.1207-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:n.1207-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382702.1:c.-12-460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369631.1:n.-12-460A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 459,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NR_168483.1:n.359-460A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732030"
    }
  ],
  "type": "nucleotide"
}