{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2390797106",
  "communityStandardTitle": [
    "NM_018961.4(UBASH3A):c.1046+2610C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3788013",
        "rs": 3788013
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 42421219,
          "referenceAllele": "C",
          "start": 42421218
        }
      ],
      "hgvs": [
        "NC_000021.9:g.42421219C=",
        "CM000683.2:g.42421219C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 43841328,
          "referenceAllele": "C",
          "start": 43841327
        }
      ],
      "hgvs": [
        "NC_000021.8:g.43841328C=",
        "CM000683.1:g.43841328C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 42714397,
          "referenceAllele": "C",
          "start": 42714396
        }
      ],
      "hgvs": [
        "NC_000021.7:g.42714397C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22358,
          "referenceAllele": "C",
          "start": 22357
        }
      ],
      "hgvs": [
        "NG_029750.1:g.22358C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22358,
          "referenceAllele": "C",
          "start": 22357
        }
      ],
      "hgvs": [
        "NG_029750.2:g.22358C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1090,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1090,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "ENST00000319294.11:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317327.6:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319294.11:c.1046+2610C="
          },
          "RefSeq": {
            "hgvs": "NM_018961.4:c.1046+2610C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317327.6:n.1046+2610C="
          },
          "RefSeq": {
            "hgvs": "NP_061834.1:n.1046+2610C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "ENST00000291535.11:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291535.6:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1077,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1077,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "ENST00000319294.10:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317327.6:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "ENST00000398367.1:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381408.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "ENST00000473381.1:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489235.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 997,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "ENST00000635325.1:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489463.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "NM_001001895.2:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001895.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "NM_001243467.1:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230396.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "NM_018961.3:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061834.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1206,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_006724013.2:c.989+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724076.1:n.989+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529605.1:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527907.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1099,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529606.1:c.641+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527908.1:n.641+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1175,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529607.1:c.641+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527909.1:n.641+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529608.1:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527910.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529609.1:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527911.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3119,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 3119,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529610.1:c.230+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527912.1:n.230+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XR_244316.1:n.1016+2610C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XR_937510.1:n.1016+2610C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1214,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_006724013.3:c.989+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724076.1:n.989+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1112,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529605.3:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527907.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1081,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1081,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529606.3:c.641+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527908.1:n.641+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1183,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529607.2:c.641+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527909.1:n.641+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1112,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529609.2:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527911.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3129,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 3129,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XM_011529610.2:c.230+2610C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527912.1:n.230+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 998,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 998,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "XR_244316.2:n.998+2610C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1090,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 1090,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "NM_018961.4:c.1046+2610C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061834.1:n.1046+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319294.11:c.1046+2610C="
          },
          "RefSeq": {
            "hgvs": "NM_018961.4:c.1046+2610C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317327.6:n.1046+2610C="
          },
          "RefSeq": {
            "hgvs": "NP_061834.1:n.1046+2610C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 976,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "NM_001001895.3:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001895.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "endIntronDirection": "+",
          "endIntronOffset": 2610,
          "referenceAllele": "C",
          "start": 976,
          "startIntronDirection": "+",
          "startIntronOffset": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012462",
      "geneNCBI_id": 53347,
      "geneSymbol": "UBASH3A",
      "hgvs": [
        "NM_001243467.2:c.932+2610C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230396.1:n.932+2610C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680226"
    }
  ],
  "type": "nucleotide"
}