{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2391589536",
  "communityStandardTitle": [
    "NM_004928.3(CFAP410):c.671T= (p.Leu224=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1114167892",
        "rs": 1114167892
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 44330298,
          "referenceAllele": "A",
          "start": 44330297
        }
      ],
      "hgvs": [
        "NC_000021.9:g.44330298A=",
        "CM000683.2:g.44330298A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 45750181,
          "referenceAllele": "A",
          "start": 45750180
        }
      ],
      "hgvs": [
        "NC_000021.8:g.45750181A=",
        "CM000683.1:g.45750181A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 44574609,
          "referenceAllele": "A",
          "start": 44574608
        }
      ],
      "hgvs": [
        "NC_000021.7:g.44574609A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14105,
          "referenceAllele": "T",
          "start": 14104
        }
      ],
      "hgvs": [
        "NG_032952.1:g.14105T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005309"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000339818.9:c.671T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344566.4:p.Leu224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339818.9:c.671T="
          },
          "RefSeq": {
            "hgvs": "NM_004928.3:c.671T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344566.4:p.Leu224="
          },
          "RefSeq": {
            "hgvs": "NP_004919.1:p.Leu224="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000325223.7:c.668T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317302.7:p.Leu223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "T",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000339818.8:c.671T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344566.4:p.Leu224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "T",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000397956.7:c.1028T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381047.3:p.Leu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4125,
          "referenceAllele": "T",
          "start": 4124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000462742.1:n.4125T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "T",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000470196.5:n.247T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "T",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "ENST00000496321.5:n.784T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826520494",
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_001271440.1:c.668T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258369.1:p.Leu223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826521037",
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "T",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_001271441.1:c.1028T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258370.1:p.Leu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826521394",
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "T",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_001271442.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258371.1:p.Leu182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829549083",
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "T",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_004928.2:c.671T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004919.1:p.Leu224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "T",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_006724051.2:c.746T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724114.1:p.Leu249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_006724052.2:c.743T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724115.1:p.Leu248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "T",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_006724053.2:c.347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724116.1:p.Leu116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XR_937571.1:n.1231T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_006724051.3:c.746T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724114.1:p.Leu249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "T",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_006724053.3:c.347T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724116.1:p.Leu116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "T",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_017028470.1:c.872T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883959.1:p.Leu291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "T",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_017028471.1:c.620T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883960.1:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "T",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XM_017028472.1:c.344T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883961.1:p.Leu115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "T",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "XR_937571.2:n.1238T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829549083",
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_004928.3:c.671T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004919.1:p.Leu224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339818.9:c.671T="
          },
          "RefSeq": {
            "hgvs": "NM_004928.3:c.671T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344566.4:p.Leu224="
          },
          "RefSeq": {
            "hgvs": "NP_004919.1:p.Leu224="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826520494",
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_001271440.2:c.668T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258369.1:p.Leu223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826521037",
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001260",
      "geneNCBI_id": 755,
      "geneSymbol": "CFAP410",
      "hgvs": [
        "NM_001271441.2:c.1028T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258370.1:p.Leu343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681137"
    }
  ],
  "type": "nucleotide"
}