{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6507318",
  "communityStandardTitle": [
    "NM_012062.5(DNM1L):c.346_347del (p.Glu116LysfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247686[alleleid]",
        "alleleId": 247686,
        "preferredName": "NM_012062.5(DNM1L):c.346_347del (p.Glu116fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253264",
        "RCV": [
          "RCV000239652",
          "RCV001854933"
        ],
        "variationId": 253264
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-32861133-CAG-C",
        "id": "12-32861133-CAG-C",
        "variant": "12:32861133 CAG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32861135_32861136del?assembly=hg19",
        "id": "chr12:g.32861135_32861136del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32861134_32861135del?assembly=hg19",
        "id": "chr12:g.32861134_32861135del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32861135_32861137delinsA?assembly=hg19",
        "id": "chr12:g.32861135_32861137delinsA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32708201_32708202del?assembly=hg38",
        "id": "chr12:g.32708201_32708202del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32708200_32708201del?assembly=hg38",
        "id": "chr12:g.32708200_32708201del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879255687",
        "rs": 879255687
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32861133-CAG-C?dataset=gnomad_r2_1",
        "id": "12-32861133-CAG-C",
        "variant": "12:32861133 CAG / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32708199-CAG-C?dataset=gnomad_r3",
        "id": "12-32708199-CAG-C",
        "variant": "12:32708199 CAG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32708199-CAG-C?dataset=gnomad_r4",
        "id": "12-32708199-CAG-C",
        "variant": "12:32708199 CAG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 32708202,
          "referenceAllele": "GA",
          "start": 32708200
        }
      ],
      "hgvs": [
        "NC_000012.12:g.32708201_32708202del",
        "CM000674.2:g.32708201_32708202del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 32861136,
          "referenceAllele": "GA",
          "start": 32861134
        }
      ],
      "hgvs": [
        "NC_000012.11:g.32861135_32861136del",
        "CM000674.1:g.32861135_32861136del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 32752403,
          "referenceAllele": "GA",
          "start": 32752401
        }
      ],
      "hgvs": [
        "NC_000012.10:g.32752402_32752403del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34000,
          "referenceAllele": "GA",
          "start": 33998
        }
      ],
      "hgvs": [
        "NG_012219.1:g.33999_34000del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002300"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000434676.7:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390090.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000390090.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904865"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 431,
          "referenceAllele": "GA",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000546757.6:c.*32_*33del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448105.2:n.*32_*33del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905813"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 471,
          "referenceAllele": "GA",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000547078.6:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448802.2:p.Glu129LysfsTer6",
        "hgvsWellDefined": "ENSP00000448802.2:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905815"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1980,
          "referenceAllele": "GA",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000547719.2:n.1979_1980del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905818"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000547932.6:c.297+788_297+789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515272.1:n.297+788_297+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905820"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 447,
          "referenceAllele": "GA",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000548671.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515271.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000515271.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 375,
          "referenceAllele": "GA",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000548750.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447788.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000447788.2:p.[Glu116_Gly120delinsLys;Asn122_Pro130delinsPheArg;Asp132_Ile145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 639,
          "referenceAllele": "GA",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000549926.6:c.-102_-101del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515263.1:n.-102_-101del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 808,
          "referenceAllele": "GA",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000550011.6:c.*336_*337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515261.1:n.*336_*337del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 341,
          "referenceAllele": "GA",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000550093.6:n.340_341del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "GA",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000551076.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515275.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000515275.1:p.[Glu116_Asn122del;Cys124_Pro131del;Pro133_Leu139del;Phe141_Pro142delinsArg;Arg145_Ser146del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 359,
          "referenceAllele": "GA",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000551476.6:c.295_296del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447845.2:p.Glu99LysfsTer6",
        "hgvsWellDefined": "ENSP00000447845.2:p.[Glu99_Gly103delinsLys;Asn105_Leu115delinsPheArg;Ile117_Val128del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 572,
          "referenceAllele": "GA",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000551643.6:c.*177_*178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450401.1:n.*177_*178del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 503,
          "referenceAllele": "GA",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703337.1:c.*143_*144del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515262.1:n.*143_*144del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 587,
          "referenceAllele": "GA",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703338.1:c.-102_-101del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515264.1:n.-102_-101del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 431,
          "referenceAllele": "GA",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703360.1:c.*32_*33del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515270.1:n.*32_*33del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911664"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 6640,
          "referenceAllele": "GA",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 6638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703361.1:c.250+6639_250+6640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515273.1:n.250+6639_250+6640del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 380,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703362.1:c.297+788_297+789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515274.1:n.297+788_297+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1968,
          "referenceAllele": "GA",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703363.1:n.1967_1968del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1952,
          "referenceAllele": "GA",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703364.1:n.1951_1952del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911668"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703365.1:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515276.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000515276.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911669"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1381,
          "referenceAllele": "GA",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703366.1:n.1380_1381del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911670"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703367.1:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515277.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000515277.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911671"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 430,
          "referenceAllele": "GA",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703368.1:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515278.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "ENSP00000515278.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 250,
          "endIntronDirection": "+",
          "endIntronOffset": 6640,
          "referenceAllele": "GA",
          "start": 250,
          "startIntronDirection": "+",
          "startIntronOffset": 6638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703369.1:c.250+6639_250+6640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515279.1:n.250+6639_250+6640del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "GA",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703370.1:c.-102_-101del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515280.1:n.-102_-101del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "GA",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703371.1:c.-102_-101del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515281.1:n.-102_-101del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911675"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 651,
          "referenceAllele": "GA",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000703372.1:c.139_140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515282.1:p.Glu47LysfsTer6",
        "hgvsWellDefined": "ENSP00000515282.1:p.[Glu47_Gly51delinsLys;Asn53_Leu63delinsPheArg;Ile65_Val76del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911676"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "GA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000549701.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450399.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000450399.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549701.6:c.346_347del"
          },
          "RefSeq": {
            "hgvs": "NM_012062.5:c.346_347del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000450399.1:p.Glu116LysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_036192.2:p.Glu116LysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 449,
          "referenceAllele": "GA",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000553257.6:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449089.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "ENSP00000449089.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553257.6:c.385_386del"
          },
          "RefSeq": {
            "hgvs": "NM_001278464.2:c.385_386del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449089.1:p.Glu129LysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001265393.1:p.Glu129LysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "referenceAllele": "GA",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000266481.10:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266481.6:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000266481.6:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 458,
          "referenceAllele": "GA",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000358214.9:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350948.5:p.Glu129LysfsTer6",
        "hgvsWellDefined": "ENSP00000350948.5:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 427,
          "referenceAllele": "GA",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000381000.8:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370388.4:p.Glu129LysfsTer6",
        "hgvsWellDefined": "ENSP00000370388.4:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273177"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000413295.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396030.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000396030.2:p.[Glu116_Gly120delinsLys;Asn122_Pro130delinsPheArg;Asp132_Ile145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282997"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000414834.6:c.131+788_131+789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404160.2:n.131+788_131+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283709"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000434676.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390090.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000390090.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293156"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "GA",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000452533.6:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415131.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000415131.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301668"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 380,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000546649.5:c.336+788_336+789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448936.1:n.336+788_336+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 198,
          "referenceAllele": "GA",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000546757.5:c.197_198del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448105.1:n.197_198del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000547312.5:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448610.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000448610.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 597,
          "referenceAllele": "GA",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000547719.1:n.596_597del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366441"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 341,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 341,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000547932.5:n.341+788_341+789del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366571"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "GA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000548671.5:n.409_410del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 375,
          "referenceAllele": "GA",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000548750.5:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447788.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000447788.1:p.[Glu116_Gly120delinsLys;Asn122_Pro130delinsPheArg;Asp132_Ile145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367042"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 421,
          "referenceAllele": "GA",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000549701.5:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450399.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "ENSP00000450399.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 525,
          "referenceAllele": "GA",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000549926.5:n.524_525del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 341,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 341,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000550154.5:c.297+788_297+789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447013.1:n.297+788_297+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "GA",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000551076.5:n.394_395del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 340,
          "referenceAllele": "GA",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000551476.5:c.295_296del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447845.1:p.Glu99LysfsTer6",
        "hgvsWellDefined": "ENSP00000447845.1:p.[Glu99_Gly103delinsLys;Asn105_Leu115delinsPheArg;Ile117_Val128del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 516,
          "referenceAllele": "GA",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000551643.5:c.*177_*178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450401.1:n.*177_*178del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368781"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 463,
          "referenceAllele": "GA",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "ENST00000553257.5:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449089.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "ENSP00000449089.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369718"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "GA",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278463.1:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265392.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_001265392.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 550,
          "referenceAllele": "GA",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278464.1:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265393.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "NP_001265393.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021304"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 550,
          "referenceAllele": "GA",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278465.1:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265394.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "NP_001265394.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278466.1:c.131+788_131+789del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265395.1:n.131+788_131+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021306"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "GA",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_005690.4:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005681.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_005681.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "GA",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_012062.4:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036192.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_036192.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "GA",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_012063.3:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036193.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_036193.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032278"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 434,
          "referenceAllele": "GA",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_005253282.3:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253339.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "XP_005253339.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060232"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 525,
          "referenceAllele": "GA",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_005253283.3:c.-102_-101del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253340.1:n.-102_-101del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060233"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 434,
          "referenceAllele": "GA",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_011520543.1:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518845.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "XP_011518845.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_011520544.1:c.-149_-148del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518846.1:n.-149_-148del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087711"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 550,
          "referenceAllele": "GA",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001330380.1:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317309.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "NP_001317309.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516761"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 434,
          "referenceAllele": "GA",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_011520543.3:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518845.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "XP_011518845.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_011520544.2:c.-149_-148del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518846.1:n.-149_-148del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545775"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "GA",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_017018663.2:c.-149_-148del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874152.1:n.-149_-148del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_017018664.1:c.-149_-148del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874153.1:n.-149_-148del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570542"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "GA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "XM_017018665.1:c.-149_-148del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874154.1:n.-149_-148del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "GA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_012062.5:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036192.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_036192.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549701.6:c.346_347del"
          },
          "RefSeq": {
            "hgvs": "NM_012062.5:c.346_347del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000450399.1:p.Glu116LysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_036192.2:p.Glu116LysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "GA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278463.2:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265392.1:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_001265392.1:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715553"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 449,
          "referenceAllele": "GA",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278464.2:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265393.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "NP_001265393.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553257.6:c.385_386del"
          },
          "RefSeq": {
            "hgvs": "NM_001278464.2:c.385_386del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449089.1:p.Glu129LysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001265393.1:p.Glu129LysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 449,
          "referenceAllele": "GA",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278465.2:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265394.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "NP_001265394.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "+",
          "endIntronOffset": 789,
          "referenceAllele": "GA",
          "start": 399,
          "startIntronDirection": "+",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001278466.2:c.131+788_131+789del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265395.1:n.131+788_131+789del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 449,
          "referenceAllele": "GA",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_001330380.2:c.385_386del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317309.1:p.Glu129LysfsTer6",
        "hgvsWellDefined": "NP_001317309.1:p.[Glu129_Gly133delinsLys;Asn135_Leu145delinsPheArg;Ile147_Val158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "GA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_005690.5:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005681.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_005681.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727659"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "GA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002973",
      "geneNCBI_id": 10059,
      "geneSymbol": "DNM1L",
      "hgvs": [
        "NM_012063.4:c.346_347del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036193.2:p.Glu116LysfsTer6",
        "hgvsWellDefined": "NP_036193.2:p.[Glu116_Gly120delinsLys;Asn122_Leu132delinsPheArg;Ile134_Val145del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727840"
    }
  ],
  "type": "nucleotide"
}