{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10640517",
  "communityStandardTitle": [
    "NM_005591.4(MRE11):c.-106+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=329842[alleleid]",
        "alleleId": 329842,
        "preferredName": "NM_005591.4(MRE11):c.-106+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/306498",
        "RCV": [
          "RCV000319622",
          "RCV001660605"
        ],
        "variationId": 306498
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.94226952C>T?assembly=hg19",
        "id": "chr11:g.94226952C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.94493786C>T?assembly=hg38",
        "id": "chr11:g.94493786C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805363",
        "rs": 1805363
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-94226952-C-T?dataset=gnomad_r2_1",
        "id": "11-94226952-C-T",
        "variant": "11:94226952 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-94493786-C-T?dataset=gnomad_r3",
        "id": "11-94493786-C-T",
        "variant": "11:94493786 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-94493786-C-T?dataset=gnomad_r4",
        "id": "11-94493786-C-T",
        "variant": "11:94493786 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 94493786,
          "referenceAllele": "C",
          "start": 94493785
        }
      ],
      "hgvs": [
        "NC_000011.10:g.94493786C>T",
        "CM000673.2:g.94493786C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 94226952,
          "referenceAllele": "C",
          "start": 94226951
        }
      ],
      "hgvs": [
        "NC_000011.9:g.94226952C>T",
        "CM000673.1:g.94226952C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 93866600,
          "referenceAllele": "C",
          "start": 93866599
        }
      ],
      "hgvs": [
        "NC_000011.8:g.93866600C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5089,
          "referenceAllele": "G",
          "start": 5088
        }
      ],
      "hgvs": [
        "NG_007261.1:g.5089G>A",
        "LRG_85:g.5089G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000323929.8:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325863.4:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323929.8:c.-106+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005591.4:c.-106+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325863.4:n.-106+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005582.1:n.-106+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 118,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000323929.7:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325863.3:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000323977.7:c.-208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326094.3:n.-208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "G",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000393241.8:c.-171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376933.4:n.-171G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000407439.7:c.-237+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385614.3:n.-237+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000536144.1:n.28G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 95,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000536754.5:c.-97+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439511.1:n.-97+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "G",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000538923.1:c.-199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442809.1:n.-199G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 44,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000540013.5:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440986.1:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "ENST00000541157.5:n.59+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "C",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025970",
      "geneNCBI_id": 54851,
      "geneSymbol": "ANKRD49",
      "hgvs": [
        "ENST00000544612.5:c.-340C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440396.1:n.-340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005590.3:c.-208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005581.2:n.-208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005591.3:c.-106+5G>A",
        "LRG_85t1:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005582.1:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XM_006718842.2:c.-208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718905.1:n.-208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "-",
          "endIntronOffset": 879,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "-",
          "startIntronOffset": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XM_011542837.1:c.-105-880G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541139.1:n.-105-880G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XR_947828.1:n.89G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 118,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_001330347.1:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317276.1:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XM_006718842.3:c.-208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718905.1:n.-208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "endIntronDirection": "-",
          "endIntronOffset": 879,
          "referenceAllele": "G",
          "start": 613,
          "startIntronDirection": "-",
          "startIntronOffset": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XM_011542837.2:c.-105-880G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541139.1:n.-105-880G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XM_017017772.1:c.-208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873261.1:n.-208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XR_947828.2:n.89G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_001330347.2:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317276.1:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "G",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005590.4:c.-208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005581.2:n.-208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005591.4:c.-106+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005582.1:n.-106+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696467",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323929.8:c.-106+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005591.4:c.-106+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325863.4:n.-106+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005582.1:n.-106+5G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}