{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2654122406",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2167_2169del (p.Leu723del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2517002200",
        "rs": 2517002200
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-25891763-TCAG-T?dataset=gnomad_r4",
        "id": "21-25891763-TCAG-T",
        "variant": "21:25891763 TCAG / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 25891768,
          "referenceAllele": "GCA",
          "start": 25891765
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891766_25891768del",
        "CM000683.2:g.25891766_25891768del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 27264080,
          "referenceAllele": "GCA",
          "start": 27264077
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264078_27264080del",
        "CM000683.1:g.27264078_27264080del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 26185951,
          "referenceAllele": "GCA",
          "start": 26185948
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185949_26185951del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 284057,
          "referenceAllele": "GCT",
          "start": 284054
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284055_284057del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 284365,
          "referenceAllele": "GCT",
          "start": 284362
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284363_284365del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2136,
          "referenceAllele": "GCT",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2134_2136del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 566,
          "referenceAllele": "GCT",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.564_566del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 835,
          "referenceAllele": "GCT",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.833_835del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2319,
          "referenceAllele": "GCT",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2167_2169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Leu723del",
        "hgvsWellDefined": "ENSP00000284981.4:p.Leu723del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2167_2169del"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2167_2169del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Leu723del"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Leu723del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2203,
          "referenceAllele": "GCT",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2167_2169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Leu723del",
        "hgvsWellDefined": "ENSP00000284981.4:p.Leu723del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2091,
          "referenceAllele": "GCT",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1942_1944del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Leu648del",
        "hgvsWellDefined": "ENSP00000345463.5:p.Leu648del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1903,
          "referenceAllele": "GCT",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1774_1776del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Leu592del",
        "hgvsWellDefined": "ENSP00000346129.3:p.Leu592del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2279,
          "referenceAllele": "GCT",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2110_2112del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Leu704del",
        "hgvsWellDefined": "ENSP00000350578.3:p.Leu704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2162,
          "referenceAllele": "GCT",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2113_2115del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Leu705del",
        "hgvsWellDefined": "ENSP00000351796.3:p.Leu705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2031,
          "referenceAllele": "GCT",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1837_1839del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Leu613del",
        "hgvsWellDefined": "ENSP00000352760.4:p.Leu613del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2035,
          "referenceAllele": "GCT",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1999_2001del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Leu667del",
        "hgvsWellDefined": "ENSP00000398879.2:p.Leu667del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2363,
          "referenceAllele": "GCT",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2095_2097del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Leu699del",
        "hgvsWellDefined": "ENSP00000387483.2:p.Leu699del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 516,
          "referenceAllele": "GCT",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.514_516del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088543202",
      "coordinates": [
        {
          "allele": "",
          "end": 2369,
          "referenceAllele": "GCT",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2167_2169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Leu723del",
        "hgvsWellDefined": "NP_000475.1:p.Leu723del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2293,
          "referenceAllele": "GCT",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2095_2097del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Leu699del",
        "hgvsWellDefined": "NP_001129488.1:p.Leu699del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1976,
          "referenceAllele": "GCT",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1774_1776del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Leu592del",
        "hgvsWellDefined": "NP_001129601.1:p.Leu592del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2201,
          "referenceAllele": "GCT",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1999_2001del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Leu667del",
        "hgvsWellDefined": "NP_001129602.1:p.Leu667del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2031,
          "referenceAllele": "GCT",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1837_1839del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Leu613del",
        "hgvsWellDefined": "NP_001129603.1:p.Leu613del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2315,
          "referenceAllele": "GCT",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2113_2115del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Leu705del",
        "hgvsWellDefined": "NP_001191230.1:p.Leu705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2258,
          "referenceAllele": "GCT",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2056_2058del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Leu686del",
        "hgvsWellDefined": "NP_001191231.1:p.Leu686del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2090,
          "referenceAllele": "GCT",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1888_1890del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Leu630del",
        "hgvsWellDefined": "NP_001191232.1:p.Leu630del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2312,
          "referenceAllele": "GCT",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2110_2112del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Leu704del",
        "hgvsWellDefined": "NP_958816.1:p.Leu704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2144,
          "referenceAllele": "GCT",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1942_1944del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Leu648del",
        "hgvsWellDefined": "NP_958817.1:p.Leu648del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088543202",
      "coordinates": [
        {
          "allele": "",
          "end": 2319,
          "referenceAllele": "GCT",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2167_2169del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Leu723del",
        "hgvsWellDefined": "NP_000475.1:p.Leu723del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2167_2169del"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2167_2169del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Leu723del"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Leu723del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1926,
          "referenceAllele": "GCT",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1774_1776del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Leu592del",
        "hgvsWellDefined": "NP_001129601.1:p.Leu592del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2151,
          "referenceAllele": "GCT",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1999_2001del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Leu667del",
        "hgvsWellDefined": "NP_001129602.1:p.Leu667del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2265,
          "referenceAllele": "GCT",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2113_2115del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Leu705del",
        "hgvsWellDefined": "NP_001191230.1:p.Leu705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2208,
          "referenceAllele": "GCT",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2056_2058del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Leu686del",
        "hgvsWellDefined": "NP_001191231.1:p.Leu686del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2040,
          "referenceAllele": "GCT",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1888_1890del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Leu630del",
        "hgvsWellDefined": "NP_001191232.1:p.Leu630del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2262,
          "referenceAllele": "GCT",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2110_2112del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Leu704del",
        "hgvsWellDefined": "NP_958816.1:p.Leu704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2094,
          "referenceAllele": "GCT",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1942_1944del"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Leu648del",
        "hgvsWellDefined": "NP_958817.1:p.Leu648del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2031,
          "referenceAllele": "GCT",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1837_1839del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Leu613del",
        "hgvsWellDefined": "NP_001129603.1:p.Leu613del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2151,
          "referenceAllele": "GCT",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1999_2001del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Leu667del",
        "hgvsWellDefined": "NP_001372182.1:p.Leu667del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}