{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA481713633",
  "communityStandardTitle": [
    "NM_000431.4(MVK):c.417del (p.Ala141ArgfsTer18)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1241457",
        "active": true,
        "id": "COSM1241457"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3084257[alleleid]",
        "alleleId": 3084257,
        "preferredName": "NM_000431.4(MVK):c.417del (p.Ala141fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2931188",
        "RCV": [
          "RCV003782450"
        ],
        "variationId": 2931188
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110019240del?assembly=hg19",
        "id": "chr12:g.110019240del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895373",
        "rs": 104895373
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109581434-GC-G?dataset=gnomad_r3",
        "id": "12-109581434-GC-G",
        "variant": "12:109581434 GC / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109581434-GC-G?dataset=gnomad_r4",
        "id": "12-109581434-GC-G",
        "variant": "12:109581434 GC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 109581440,
          "referenceAllele": "C",
          "start": 109581439
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109581440del",
        "CM000674.2:g.109581440del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 110019245,
          "referenceAllele": "C",
          "start": 110019244
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110019245del",
        "CM000674.1:g.110019245del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 108503628,
          "referenceAllele": "C",
          "start": 108503627
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108503628del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12746,
          "referenceAllele": "C",
          "start": 12745
        }
      ],
      "hgvs": [
        "NG_007702.1:g.12746del",
        "LRG_156:g.12746del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 7567,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 7566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.6:c.-92+7567del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-92+7567del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905776"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000438153.2:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "C",
          "start": 78,
          "startIntronDirection": "-",
          "startIntronOffset": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.2:n.79-4582del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697195.1:c.*181del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513181.1:n.*181del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908600"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697196.1:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513182.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000513182.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908601"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.8:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000228510.3:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.417del"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.417del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Ala141ArgfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Ala141ArgfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 64,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "C",
          "start": 64,
          "startIntronDirection": "-",
          "startIntronOffset": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.1:c.65-4582del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636996.1:c.265del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.7:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000228510.3:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248629"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "C",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000392727.7:c.371+1494del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376487.3:n.371+1494del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275255"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "C",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000447878.6:c.227-4582del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415555.2:n.227-4582del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "C",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000535044.1:n.472-4582del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359511"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000537237.5:c.*181del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445382.1:n.*181del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360671"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539335.5:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440379.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000440379.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361809"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539575.4:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443551.2:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000443551.2:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361933"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 7567,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 7566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.5:c.-92+7567del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-92+7567del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "C",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000545774.5:c.227-4582del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443978.1:n.227-4582del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365278"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.5:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "ENSP00000438153.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "C",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000625889.2:c.371+1494del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486846.1:n.371+1494del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406638"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 4581,
          "referenceAllele": "C",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000629016.2:c.227-4582del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486804.1:n.227-4582del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.3:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "NP_000422.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.2:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "NP_001107657.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "C",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.1:c.371+1494del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:n.371+1494del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "XP_011536674.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "C",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.371+1494del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:n.371+1494del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "XP_016874803.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "XP_024304750.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "NP_000422.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.417del"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.417del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Ala141ArgfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Ala141ArgfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Ala141ArgfsTer18",
        "hgvsWellDefined": "NP_001107657.1:p.[Ala141_Ser146delinsArg;Ala148_Leu153delinsTrp;Ala155Pro;Leu157_Leu158delinsProPro;Val160Arg;Glu162_Asn166delinsValTrpGlnGln;Leu168_Lys169delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 1494,
          "referenceAllele": "C",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.371+1494del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:n.371+1494del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}