{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12452999",
  "communityStandardTitle": [
    "NM_001013836.2(MAD1L1):c.1998+25614T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.1912222A>G?assembly=hg19",
        "id": "chr7:g.1912222A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.1872586A>G?assembly=hg38",
        "id": "chr7:g.1872586A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4721135",
        "rs": 4721135
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-1912222-A-G?dataset=gnomad_r2_1",
        "id": "7-1912222-A-G",
        "variant": "7:1912222 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-1872586-A-G?dataset=gnomad_r3",
        "id": "7-1872586-A-G",
        "variant": "7:1872586 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-1872586-A-G?dataset=gnomad_r4",
        "id": "7-1872586-A-G",
        "variant": "7:1872586 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 1872586,
          "referenceAllele": "A",
          "start": 1872585
        }
      ],
      "hgvs": [
        "NC_000007.14:g.1872586A>G",
        "CM000669.2:g.1872586A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 1912222,
          "referenceAllele": "A",
          "start": 1912221
        }
      ],
      "hgvs": [
        "NC_000007.13:g.1912222A>G",
        "CM000669.1:g.1912222A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 1878748,
          "referenceAllele": "A",
          "start": 1878747
        }
      ],
      "hgvs": [
        "NC_000007.12:g.1878748A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365362,
          "referenceAllele": "T",
          "start": 365361
        }
      ],
      "hgvs": [
        "NG_011518.1:g.365362T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001785"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2261,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000265854.12:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265854.7:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742895",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265854.12:c.1998+25614T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001013836.2:c.1998+25614T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265854.7:n.1998+25614T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001013858.1:n.1998+25614T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5272,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 5272,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "hgvs": [
        "ENST00000651235.1:c.*4758+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498895.1:n.*4758+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2283,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2283,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000265854.11:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265854.7:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2327,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2327,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000399654.6:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382562.2:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1920,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1920,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000402746.5:c.1722+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384155.1:n.1722+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2556,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2556,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000406869.5:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385334.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 703,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 703,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000450235.5:c.651+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394886.1:n.651+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 59,
          "referenceAllele": "T",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000481633.1:n.112+59T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2264,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2264,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013836.1:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013858.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2261,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013837.1:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013859.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2085,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2085,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304523.1:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291452.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1923,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1923,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304524.1:c.1722+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291453.1:n.1722+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304525.1:c.366+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291454.1:n.366+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2301,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2301,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_003550.2:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003541.2:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1980,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_005249877.1:c.1857+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249934.1:n.1857+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515567.1:c.1941+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513869.1:n.1941+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515569.1:c.768+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513871.1:n.768+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1274,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515571.1:c.768+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513873.1:n.768+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1037,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515569.3:c.1032+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513871.2:n.1032+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2479,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2479,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_017012690.1:c.2190+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868179.1:n.2190+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2058,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_017012691.2:c.768+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868180.1:n.768+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2229,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2229,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_024446951.1:c.1941+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302719.1:n.1941+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2218,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2218,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_024446952.1:c.1941+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302720.1:n.1941+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2261,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013836.2:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013858.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265854.12:c.1998+25614T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001013836.2:c.1998+25614T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265854.7:n.1998+25614T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001013858.1:n.1998+25614T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2258,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2258,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013837.2:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013859.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2082,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2082,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304523.2:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291452.1:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1920,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 1920,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304524.2:c.1722+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291453.1:n.1722+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304525.2:c.366+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291454.1:n.366+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2298,
          "endIntronDirection": "+",
          "endIntronOffset": 25614,
          "referenceAllele": "T",
          "start": 2298,
          "startIntronDirection": "+",
          "startIntronOffset": 25613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_003550.3:c.1998+25614T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003541.2:n.1998+25614T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695890"
    }
  ],
  "type": "nucleotide"
}