{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2383551644",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2078A= (p.Glu693=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751039",
        "rs": 63751039
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 25891855,
          "referenceAllele": "T",
          "start": 25891854
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891855T=",
        "CM000683.2:g.25891855T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 27264167,
          "referenceAllele": "T",
          "start": 27264166
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264167T=",
        "CM000683.1:g.27264167T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 26186038,
          "referenceAllele": "T",
          "start": 26186037
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186038T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283966,
          "referenceAllele": "A",
          "start": 283965
        }
      ],
      "hgvs": [
        "NG_007376.1:g.283966A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284274,
          "referenceAllele": "A",
          "start": 284273
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284274A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2045,
          "referenceAllele": "A",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2045A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 475,
          "referenceAllele": "A",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.475A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.744A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "A",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2078A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Glu693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2078A="
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2078A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Glu693="
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Glu693="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "A",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2078A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Glu693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "A",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1853A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Glu618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "referenceAllele": "A",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1685A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2188,
          "referenceAllele": "A",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2021A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Glu674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2071,
          "referenceAllele": "A",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "A",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1748A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Glu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "referenceAllele": "A",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1910A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Glu637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "A",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2006A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Glu669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "A",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.425A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187542",
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "A",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2078A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Glu693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825808515",
      "coordinates": [
        {
          "allele": "A",
          "end": 2202,
          "referenceAllele": "A",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2006A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Glu669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817956",
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "A",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1685A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818451",
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1910A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Glu637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818880",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "A",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1748A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Glu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270360",
      "coordinates": [
        {
          "allele": "A",
          "end": 2224,
          "referenceAllele": "A",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270639",
      "coordinates": [
        {
          "allele": "A",
          "end": 2167,
          "referenceAllele": "A",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1967A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Glu656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270895",
      "coordinates": [
        {
          "allele": "A",
          "end": 1999,
          "referenceAllele": "A",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1799A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Glu600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508774",
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "A",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2021A="
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Glu674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508988",
      "coordinates": [
        {
          "allele": "A",
          "end": 2053,
          "referenceAllele": "A",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1853A="
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Glu618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187542",
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "A",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2078A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Glu693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2078A="
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2078A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Glu693="
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Glu693="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817956",
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "A",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1685A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818451",
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "referenceAllele": "A",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1910A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Glu637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270360",
      "coordinates": [
        {
          "allele": "A",
          "end": 2174,
          "referenceAllele": "A",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2024A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270639",
      "coordinates": [
        {
          "allele": "A",
          "end": 2117,
          "referenceAllele": "A",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1967A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Glu656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826270895",
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "A",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1799A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Glu600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508774",
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "A",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2021A="
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Glu674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508988",
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "referenceAllele": "A",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1853A="
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Glu618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825818880",
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "A",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1748A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Glu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828960820",
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "referenceAllele": "A",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1910A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Glu637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}