{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2175642637",
  "communityStandardTitle": [
    "NM_001194998.2(CEP152):c.2000A= (p.Lys667=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200879436",
        "rs": 200879436
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48768237,
          "referenceAllele": "T",
          "start": 48768236
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48768237T=",
        "CM000677.2:g.48768237T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 49060434,
          "referenceAllele": "T",
          "start": 49060433
        }
      ],
      "hgvs": [
        "NC_000015.9:g.49060434T=",
        "CM000677.1:g.49060434T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46847726,
          "referenceAllele": "T",
          "start": 46847725
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46847726T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47910,
          "referenceAllele": "A",
          "start": 47909
        }
      ],
      "hgvs": [
        "NG_027518.1:g.47910A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47910,
          "referenceAllele": "A",
          "start": 47909
        }
      ],
      "hgvs": [
        "NG_027518.2:g.47910A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673739"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "referenceAllele": "A",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "ENST00000380950.7:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370337.2:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380950.7:c.2000A="
          },
          "RefSeq": {
            "hgvs": "NM_001194998.2:c.2000A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370337.2:p.Lys667="
          },
          "RefSeq": {
            "hgvs": "NP_001181927.1:p.Lys667="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "ENST00000325747.9:c.1721A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321000.5:p.Lys574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2188,
          "referenceAllele": "A",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "ENST00000380950.6:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370337.2:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2034,
          "referenceAllele": "A",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "ENST00000399334.7:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382271.3:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "A",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "NM_001194998.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001181927.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081953583",
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "A",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "NM_014985.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055800.2:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_006720437.2:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720500.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521373.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519675.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521374.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519676.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521375.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519677.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521376.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519678.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521377.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519679.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521378.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519680.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521379.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519681.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "A",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521381.1:c.35A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519683.1:p.Lys12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931769.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931770.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931771.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931772.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931773.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931774.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "A",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931775.1:n.2965A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_006720437.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720500.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521373.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519675.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521374.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519676.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521375.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519677.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521378.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519680.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521379.3:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519681.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1106,
          "referenceAllele": "A",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_011521381.2:c.35A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519683.1:p.Lys12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "referenceAllele": "A",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_017022015.1:c.35A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877504.1:p.Lys12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_017022016.2:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877505.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XM_024449875.1:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305643.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_001751153.2:n.2951A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931769.3:n.2951A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931770.3:n.2951A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "referenceAllele": "A",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "XR_931775.3:n.2951A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "referenceAllele": "A",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "NM_001194998.2:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001181927.1:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380950.7:c.2000A="
          },
          "RefSeq": {
            "hgvs": "NM_001194998.2:c.2000A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370337.2:p.Lys667="
          },
          "RefSeq": {
            "hgvs": "NP_001181927.1:p.Lys667="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081953583",
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "referenceAllele": "A",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029298",
      "geneNCBI_id": 22995,
      "geneSymbol": "CEP152",
      "hgvs": [
        "NM_014985.4:c.2000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055800.2:p.Lys667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697410"
    }
  ],
  "type": "nucleotide"
}