{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2654122462",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2116_2118del (p.Met706del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2517002615",
        "rs": 2517002615
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-25891814-CCAT-C?dataset=gnomad_r4",
        "id": "21-25891814-CCAT-C",
        "variant": "21:25891814 CCAT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 25891817,
          "referenceAllele": "CAT",
          "start": 25891814
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891815_25891817del",
        "CM000683.2:g.25891815_25891817del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 27264129,
          "referenceAllele": "CAT",
          "start": 27264126
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264127_27264129del",
        "CM000683.1:g.27264127_27264129del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 26186000,
          "referenceAllele": "CAT",
          "start": 26185997
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185998_26186000del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 284006,
          "referenceAllele": "ATG",
          "start": 284003
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284004_284006del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 284314,
          "referenceAllele": "ATG",
          "start": 284311
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284312_284314del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2085,
          "referenceAllele": "ATG",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2083_2085del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 515,
          "referenceAllele": "ATG",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.513_515del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 784,
          "referenceAllele": "ATG",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.782_784del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2268,
          "referenceAllele": "ATG",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2116_2118del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Met706del",
        "hgvsWellDefined": "ENSP00000284981.4:p.Met706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2116_2118del"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2116_2118del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Met706del"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Met706del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2152,
          "referenceAllele": "ATG",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2116_2118del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Met706del",
        "hgvsWellDefined": "ENSP00000284981.4:p.Met706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2040,
          "referenceAllele": "ATG",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1891_1893del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Met631del",
        "hgvsWellDefined": "ENSP00000345463.5:p.Met631del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1852,
          "referenceAllele": "ATG",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1723_1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Met575del",
        "hgvsWellDefined": "ENSP00000346129.3:p.Met575del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2228,
          "referenceAllele": "ATG",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2059_2061del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Met687del",
        "hgvsWellDefined": "ENSP00000350578.3:p.Met687del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2111,
          "referenceAllele": "ATG",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2062_2064del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Met688del",
        "hgvsWellDefined": "ENSP00000351796.3:p.Met688del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1980,
          "referenceAllele": "ATG",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1786_1788del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Met596del",
        "hgvsWellDefined": "ENSP00000352760.4:p.Met596del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1984,
          "referenceAllele": "ATG",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1948_1950del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Met650del",
        "hgvsWellDefined": "ENSP00000398879.2:p.Met650del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2312,
          "referenceAllele": "ATG",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2044_2046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Met682del",
        "hgvsWellDefined": "ENSP00000387483.2:p.Met682del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "referenceAllele": "ATG",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.463_465del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088543195",
      "coordinates": [
        {
          "allele": "",
          "end": 2318,
          "referenceAllele": "ATG",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2116_2118del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Met706del",
        "hgvsWellDefined": "NP_000475.1:p.Met706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2242,
          "referenceAllele": "ATG",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2044_2046del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Met682del",
        "hgvsWellDefined": "NP_001129488.1:p.Met682del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1925,
          "referenceAllele": "ATG",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1723_1725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Met575del",
        "hgvsWellDefined": "NP_001129601.1:p.Met575del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2150,
          "referenceAllele": "ATG",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1948_1950del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Met650del",
        "hgvsWellDefined": "NP_001129602.1:p.Met650del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1980,
          "referenceAllele": "ATG",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1786_1788del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Met596del",
        "hgvsWellDefined": "NP_001129603.1:p.Met596del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2264,
          "referenceAllele": "ATG",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2062_2064del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Met688del",
        "hgvsWellDefined": "NP_001191230.1:p.Met688del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2207,
          "referenceAllele": "ATG",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2005_2007del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Met669del",
        "hgvsWellDefined": "NP_001191231.1:p.Met669del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2039,
          "referenceAllele": "ATG",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1837_1839del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Met613del",
        "hgvsWellDefined": "NP_001191232.1:p.Met613del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2261,
          "referenceAllele": "ATG",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2059_2061del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Met687del",
        "hgvsWellDefined": "NP_958816.1:p.Met687del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2093,
          "referenceAllele": "ATG",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1891_1893del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Met631del",
        "hgvsWellDefined": "NP_958817.1:p.Met631del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088543195",
      "coordinates": [
        {
          "allele": "",
          "end": 2268,
          "referenceAllele": "ATG",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2116_2118del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Met706del",
        "hgvsWellDefined": "NP_000475.1:p.Met706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2116_2118del"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2116_2118del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Met706del"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Met706del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1875,
          "referenceAllele": "ATG",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1723_1725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Met575del",
        "hgvsWellDefined": "NP_001129601.1:p.Met575del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2100,
          "referenceAllele": "ATG",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1948_1950del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Met650del",
        "hgvsWellDefined": "NP_001129602.1:p.Met650del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2214,
          "referenceAllele": "ATG",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2062_2064del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Met688del",
        "hgvsWellDefined": "NP_001191230.1:p.Met688del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2157,
          "referenceAllele": "ATG",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2005_2007del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Met669del",
        "hgvsWellDefined": "NP_001191231.1:p.Met669del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1989,
          "referenceAllele": "ATG",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1837_1839del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Met613del",
        "hgvsWellDefined": "NP_001191232.1:p.Met613del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2211,
          "referenceAllele": "ATG",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2059_2061del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Met687del",
        "hgvsWellDefined": "NP_958816.1:p.Met687del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2043,
          "referenceAllele": "ATG",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1891_1893del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Met631del",
        "hgvsWellDefined": "NP_958817.1:p.Met631del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1980,
          "referenceAllele": "ATG",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1786_1788del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Met596del",
        "hgvsWellDefined": "NP_001129603.1:p.Met596del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2100,
          "referenceAllele": "ATG",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1948_1950del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Met650del",
        "hgvsWellDefined": "NP_001372182.1:p.Met650del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}