{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130492",
  "communityStandardTitle": [
    "NM_000431.4(MVK):c.417dup (p.Gly140ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48326[alleleid]",
        "alleleId": 48326,
        "preferredName": "NM_000431.4(MVK):c.417dup (p.Gly140fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39727",
        "RCV": [
          "RCV000032941",
          "RCV000074423",
          "RCV000083840",
          "RCV000657168"
        ],
        "variationId": 39727
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-110019239-G-GC",
        "id": "12-110019239-G-GC",
        "variant": "12:110019239 G / GC"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110019245dupC?assembly=hg19",
        "id": "chr12:g.110019245dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110019239_110019240insC?assembly=hg19",
        "id": "chr12:g.110019239_110019240insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109581440dupC?assembly=hg38",
        "id": "chr12:g.109581440dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109581434_109581435insC?assembly=hg38",
        "id": "chr12:g.109581434_109581435insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895373",
        "rs": 104895373
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110019239-G-GC?dataset=gnomad_r2_1",
        "id": "12-110019239-G-GC",
        "variant": "12:110019239 G / GC"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109581434-G-GC?dataset=gnomad_r3",
        "id": "12-109581434-G-GC",
        "variant": "12:109581434 G / GC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109581434-G-GC?dataset=gnomad_r4",
        "id": "12-109581434-G-GC",
        "variant": "12:109581434 G / GC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109581440,
          "referenceAllele": "",
          "start": 109581440
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109581440dup",
        "CM000674.2:g.109581440dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 110019245,
          "referenceAllele": "",
          "start": 110019245
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110019245dup",
        "CM000674.1:g.110019245dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 108503628,
          "referenceAllele": "",
          "start": 108503628
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108503628dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12746,
          "referenceAllele": "",
          "start": 12746
        }
      ],
      "hgvs": [
        "NG_007702.1:g.12746dup",
        "LRG_156:g.12746dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 7567,
          "referenceAllele": "",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 7567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.6:c.-92+7567dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-92+7567dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000438153.2:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "",
          "start": 78,
          "startIntronDirection": "-",
          "startIntronOffset": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.2:n.79-4582dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697195.1:c.*181dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513181.1:n.*181dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "referenceAllele": "",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697196.1:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513182.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000513182.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.8:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000228510.3:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.417dup"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.417dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Gly140ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Gly140ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "",
          "start": 64,
          "startIntronDirection": "-",
          "startIntronOffset": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.1:c.65-4582dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636996.1:c.265dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.7:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000228510.3:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000392727.7:c.371+1494dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376487.3:n.371+1494dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000447878.6:c.227-4582dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415555.2:n.227-4582dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000535044.1:n.472-4582dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000537237.5:c.*181dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445382.1:n.*181dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539335.5:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440379.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000440379.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539575.4:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443551.2:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000443551.2:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 7567,
          "referenceAllele": "",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 7567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.5:c.-92+7567dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-92+7567dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000545774.5:c.227-4582dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443978.1:n.227-4582dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.5:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "ENSP00000438153.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000625889.2:c.371+1494dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486846.1:n.371+1494dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000629016.2:c.227-4582dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486804.1:n.227-4582dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.3:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "NP_000422.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.2:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "NP_001107657.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.1:c.371+1494dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:n.371+1494dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "XP_011536674.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.371+1494dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:n.371+1494dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "XP_016874803.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 542,
          "referenceAllele": "",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "XP_024304750.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "NP_000422.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.417dup"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.417dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Gly140ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Gly140ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.417dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Gly140ArgfsTer?",
        "hgvsWellDefined": "NP_001107657.1:p.[Gly140_Ala141delinsArgGly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Lys169delinsAlaGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.371+1494dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:n.371+1494dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}