{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3123355190",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.7806T= (p.Ala2602=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358371",
        "rs": 80358371
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 37060964,
          "referenceAllele": "T",
          "start": 37060963
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37060964T=",
        "CM000667.2:g.37060964T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 37061066,
          "referenceAllele": "T",
          "start": 37061065
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37061066T=",
        "CM000667.1:g.37061066T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 37096823,
          "referenceAllele": "T",
          "start": 37096822
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37096823T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189082,
          "referenceAllele": "T",
          "start": 189081
        }
      ],
      "hgvs": [
        "NG_006987.1:g.189082T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189082,
          "referenceAllele": "T",
          "start": 189081
        }
      ],
      "hgvs": [
        "NG_006987.2:g.189082T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8295,
          "referenceAllele": "T",
          "start": 8294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.7806T="
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.7806T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Ala2602="
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Ala2602="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8076,
          "referenceAllele": "T",
          "start": 8075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.7659T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Ala2553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8305,
          "referenceAllele": "T",
          "start": 8304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8274,
          "referenceAllele": "T",
          "start": 8273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "endIntronDirection": "+",
          "endIntronOffset": 1799,
          "referenceAllele": "T",
          "start": 263,
          "startIntronDirection": "+",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000513819.1:c.263+1799T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421504.1:n.263+1799T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000514335.1:n.1688T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 3613,
          "referenceAllele": "T",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 3614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-3614T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-3614T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070944155",
      "coordinates": [
        {
          "allele": "T",
          "end": 8305,
          "referenceAllele": "T",
          "start": 8304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8305,
          "referenceAllele": "T",
          "start": 8304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8294,
          "referenceAllele": "T",
          "start": 8293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7133,
          "referenceAllele": "T",
          "start": 7132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.7062T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Ala2354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8147,
          "referenceAllele": "T",
          "start": 8146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.7659T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Ala2553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8096,
          "referenceAllele": "T",
          "start": 8095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.7608T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Ala2536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7913,
          "referenceAllele": "T",
          "start": 7912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.7425T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Ala2475="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8294,
          "referenceAllele": "T",
          "start": 8293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7795,
          "referenceAllele": "T",
          "start": 7794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.7146T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Ala2382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8096,
          "referenceAllele": "T",
          "start": 8095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.7608T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Ala2536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8147,
          "referenceAllele": "T",
          "start": 8146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.7659T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Ala2553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7919,
          "referenceAllele": "T",
          "start": 7918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.6189T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Ala2063="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6668,
          "referenceAllele": "T",
          "start": 6667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.6180T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Ala2060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8295,
          "referenceAllele": "T",
          "start": 8294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.7806T="
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.7806T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Ala2602="
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Ala2602="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070944155",
      "coordinates": [
        {
          "allele": "T",
          "end": 8295,
          "referenceAllele": "T",
          "start": 8294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.7806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Ala2602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}