{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375012112",
  "communityStandardTitle": [
    "NM_004408.4(DNM1):c.590-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1704163[alleleid]",
        "alleleId": 1704163,
        "preferredName": "NM_004408.4(DNM1):c.590-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705841",
        "RCV": [
          "RCV002284151"
        ],
        "variationId": 1705841
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130982265A>G?assembly=hg19",
        "id": "chr9:g.130982265A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.128219986A>G?assembly=hg38",
        "id": "chr9:g.128219986A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2538983876",
        "rs": 2538983876
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-128219986-A-G?dataset=gnomad_r4",
        "id": "9-128219986-A-G",
        "variant": "9:128219986 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 128219986,
          "referenceAllele": "A",
          "start": 128219985
        }
      ],
      "hgvs": [
        "NC_000009.12:g.128219986A>G",
        "CM000671.2:g.128219986A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130982265,
          "referenceAllele": "A",
          "start": 130982264
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130982265A>G",
        "CM000671.1:g.130982265A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130022086,
          "referenceAllele": "A",
          "start": 130022085
        }
      ],
      "hgvs": [
        "NC_000009.10:g.130022086A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21603,
          "referenceAllele": "A",
          "start": 21602
        }
      ],
      "hgvs": [
        "NG_029726.1:g.21603A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000706053.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516205.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000706054.1:c.225-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000372923.8:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362014.4:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372923.8:c.590-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004408.4:c.590-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362014.4:n.590-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004399.2:n.590-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000634267.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489096.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000636280.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490285.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 416,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000637999.1:c.417-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000341179.11:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345680.7:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000372923.7:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362014.3:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000393594.7:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377219.3:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000441149.6:n.391-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000475805.5:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419225.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 645,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000486160.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420045.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000627061.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486437.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000627543.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487310.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000628346.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486525.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "ENST00000634267.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489096.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001005336.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005336.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001288737.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275666.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001288738.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275667.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001288739.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275668.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_004408.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004399.2:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251763.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251820.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251764.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251821.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251768.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251825.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251769.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251826.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_006716992.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717055.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_006716993.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717056.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518334.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516636.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518335.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516637.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518336.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516638.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518337.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516639.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518338.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516640.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_242572.1:n.706-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_242573.2:n.706-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_929729.1:n.706-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_929730.1:n.706-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251763.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251820.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251768.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251825.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_005251769.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251826.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_006716992.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717055.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_006716993.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717056.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518335.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516637.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_011518336.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516638.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_017014369.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869858.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_017014370.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869859.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_017014371.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869860.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_017014372.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869861.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XM_017014373.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869862.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_001746219.2:n.682-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_001746220.2:n.682-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_001746221.2:n.682-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "XR_001746222.2:n.682-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001005336.3:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005336.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001288737.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275666.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001288738.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275667.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001288739.2:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275668.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_001374269.1:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361198.1:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002972",
      "geneNCBI_id": 1759,
      "geneSymbol": "DNM1",
      "hgvs": [
        "NM_004408.4:c.590-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004399.2:n.590-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696133",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372923.8:c.590-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004408.4:c.590-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362014.4:n.590-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004399.2:n.590-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}