{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2499214977",
  "communityStandardTitle": [
    "NM_001378120.1(MBD5):c.1449del (p.Ser484ValfsTer14)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1058929[alleleid]",
        "alleleId": 1058929,
        "preferredName": "NM_001378120.1(MBD5):c.1449del (p.Ser484fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075681",
        "RCV": [
          "RCV001389351"
        ],
        "variationId": 1075681
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2105633124",
        "rs": 2105633124
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 148469392,
          "referenceAllele": "T",
          "start": 148469391
        }
      ],
      "hgvs": [
        "NC_000002.12:g.148469392del",
        "CM000664.2:g.148469392del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 149226961,
          "referenceAllele": "T",
          "start": 149226960
        }
      ],
      "hgvs": [
        "NC_000002.11:g.149226961del",
        "CM000664.1:g.149226961del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 148943431,
          "referenceAllele": "T",
          "start": 148943430
        }
      ],
      "hgvs": [
        "NC_000002.10:g.148943431del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453382,
          "referenceAllele": "T",
          "start": 453381
        }
      ],
      "hgvs": [
        "NG_017003.1:g.453382del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003361"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453382,
          "referenceAllele": "T",
          "start": 453381
        }
      ],
      "hgvs": [
        "NG_017003.2:g.453382del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673695"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2552,
          "referenceAllele": "T",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000638043.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490728.2:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2967,
          "referenceAllele": "T",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000642680.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493871.2:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766872",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642680.2:c.1449del"
          },
          "RefSeq": {
            "hgvs": "NM_001378120.1:c.1449del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493871.2:p.Ser484ValfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_001365049.1:p.Ser484ValfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1578,
          "referenceAllele": "T",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000404807.5:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384672.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280167"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2446,
          "referenceAllele": "T",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000407073.5:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386049.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000416015.2:c.668del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284268"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2547,
          "referenceAllele": "T",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000627651.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486370.1:p.Ser484ValfsTer14",
        "hgvsWellDefined": "ENSP00000486370.1:p.[Ser484_Lys487delinsVal;Pro489_Ser492delinsLeuArgPheHis;Arg494_Ile497delinsGlyHisGln;Ser499_Asp513delinsGlnGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406929"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "ENST00000629878.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487089.1:p.Ser484ValfsTer14",
        "hgvsWellDefined": "ENSP00000487089.1:p.[Ser484_Lys487delinsVal;Pro489_Ser492delinsLeuArgPheHis;Arg494_Ile497delinsGlyHisGln;Ser499_Asp513delinsGlnGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407284"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2446,
          "referenceAllele": "T",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "NM_018328.4:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060798.2:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_005263711.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263768.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063922"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511470.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509772.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078731"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2852,
          "referenceAllele": "T",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511471.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509773.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078732"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511472.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509774.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511473.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509775.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078734"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511474.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509776.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078735"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511475.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509777.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511476.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509778.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XR_922967.1:n.2678del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2678,
          "referenceAllele": "T",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511470.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509772.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542158"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_011511472.2:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509774.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_024452987.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308755.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586374"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_024452988.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308756.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586375"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_024452989.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308757.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586376"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XM_024452990.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308758.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586377"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XR_002959318.1:n.1761del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605251"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "XR_002959319.1:n.1761del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2967,
          "referenceAllele": "T",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "NM_001378120.1:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365049.1:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721479",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642680.2:c.1449del"
          },
          "RefSeq": {
            "hgvs": "NM_001378120.1:c.1449del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493871.2:p.Ser484ValfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_001365049.1:p.Ser484ValfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2446,
          "referenceAllele": "T",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020444",
      "geneNCBI_id": 55777,
      "geneSymbol": "MBD5",
      "hgvs": [
        "NM_018328.5:c.1449del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060798.2:p.Ser484ValfsTer14"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728316"
    }
  ],
  "type": "nucleotide"
}