{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7450720",
  "communityStandardTitle": [
    "NM_014967.5(FAN1):c.2616del (p.Asp873ThrfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=430985[alleleid]",
        "alleleId": 430985,
        "preferredName": "NM_014967.5(FAN1):c.2616del (p.Asp873fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437429",
        "RCV": [
          "RCV000501496",
          "RCV001857188"
        ],
        "variationId": 437429
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-31221428-CA-C",
        "id": "15-31221428-CA-C",
        "variant": "15:31221428 CA / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31221429del?assembly=hg19",
        "id": "chr15:g.31221429del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.30929226del?assembly=hg38",
        "id": "chr15:g.30929226del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750056424",
        "rs": 750056424
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31221428-CA-C?dataset=gnomad_r2_1",
        "id": "15-31221428-CA-C",
        "variant": "15:31221428 CA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-30929225-CA-C?dataset=gnomad_r3",
        "id": "15-30929225-CA-C",
        "variant": "15:30929225 CA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-30929225-CA-C?dataset=gnomad_r4",
        "id": "15-30929225-CA-C",
        "variant": "15:30929225 CA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 30929226,
          "referenceAllele": "A",
          "start": 30929225
        }
      ],
      "hgvs": [
        "NC_000015.10:g.30929226del",
        "CM000677.2:g.30929226del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 31221429,
          "referenceAllele": "A",
          "start": 31221428
        }
      ],
      "hgvs": [
        "NC_000015.9:g.31221429del",
        "CM000677.1:g.31221429del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 29008721,
          "referenceAllele": "A",
          "start": 29008720
        }
      ],
      "hgvs": [
        "NC_000015.8:g.29008721del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30375,
          "referenceAllele": "A",
          "start": 30374
        }
      ],
      "hgvs": [
        "NG_032946.1:g.30375del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30375,
          "referenceAllele": "A",
          "start": 30374
        }
      ],
      "hgvs": [
        "NG_032946.2:g.30375del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673874"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2865,
          "referenceAllele": "A",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000362065.9:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354497.4:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "ENSP00000354497.4:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362065.9:c.2616del"
          },
          "RefSeq": {
            "hgvs": "NM_014967.5:c.2616del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354497.4:p.Asp873ThrfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_055782.3:p.Asp873ThrfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4743,
          "referenceAllele": "A",
          "start": 4742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000562881.2:n.4743del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760372"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000654056.1:c.*460del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499726.1:n.*460del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5997,
          "referenceAllele": "A",
          "start": 5996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000655421.1:n.5997del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5481,
          "referenceAllele": "A",
          "start": 5480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000656307.1:n.5481del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772534"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2792,
          "referenceAllele": "A",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000656435.1:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499534.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "ENSP00000499534.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772537"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2799,
          "referenceAllele": "A",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000657391.1:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499703.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "ENSP00000499703.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772587"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000661974.1:c.4521del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4145,
          "referenceAllele": "A",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000664070.1:c.*2156del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499478.1:n.*2156del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000664837.1:c.1326del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499780.1:p.Asp443ThrfsTer17",
        "hgvsWellDefined": "ENSP00000499780.1:p.[Asp443_Thr447delinsThrAlaSer;Arg449_Pro451delinsGln;Leu453_Glu454delinsAsp;Arg456_Gln458delinsGlnPro;Ile460_Ala463delinsArg;Glu465_Glu466delinsGlyCys;Leu468_Val472del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772872"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2428,
          "referenceAllele": "A",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000667837.1:n.2428del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772996"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2332,
          "referenceAllele": "A",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000670074.1:c.*1358del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499252.1:n.*1358del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773087"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2907,
          "referenceAllele": "A",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000670849.1:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499638.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "ENSP00000499638.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2907,
          "referenceAllele": "A",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000362065.8:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354497.4:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "ENSP00000354497.4:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265772"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 257,
          "referenceAllele": "A",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000562881.1:n.257del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377068"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3015,
          "referenceAllele": "A",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000565280.5:c.*1457del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455573.1:n.*1457del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378653"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 568,
          "referenceAllele": "A",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "ENST00000568145.5:n.568del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2907,
          "referenceAllele": "A",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "NM_014967.4:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055782.3:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "NP_055782.3:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2892,
          "referenceAllele": "A",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_005254232.3:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254289.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "XP_005254289.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2804,
          "referenceAllele": "A",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_005254234.3:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254291.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "XP_005254291.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2797,
          "referenceAllele": "A",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_005254235.3:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254292.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "XP_005254292.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1585,
          "referenceAllele": "A",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_011521370.1:c.1434del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519672.1:p.Asp479ThrfsTer17",
        "hgvsWellDefined": "XP_011519672.1:p.[Asp479_Thr483delinsThrAlaSer;Arg485_Pro487delinsGln;Leu489_Glu490delinsAsp;Arg492_Gln494delinsGlnPro;Ile496_Ala499delinsArg;Glu501_Glu502delinsGlyCys;Leu504_Val508del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088531"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3026,
          "referenceAllele": "A",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_011521371.1:c.1431del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519673.1:p.Asp478ThrfsTer17",
        "hgvsWellDefined": "XP_011519673.1:p.[Asp478_Thr482delinsThrAlaSer;Arg484_Pro486delinsGln;Leu488_Glu489delinsAsp;Arg491_Gln493delinsGlnPro;Ile495_Ala498delinsArg;Glu500_Glu501delinsGlyCys;Leu503_Val507del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1627,
          "endIntronDirection": "-",
          "endIntronOffset": 415,
          "referenceAllele": "T",
          "start": 1627,
          "startIntronDirection": "-",
          "startIntronOffset": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025999",
      "geneNCBI_id": 54893,
      "geneSymbol": "MTMR10",
      "hgvs": [
        "XM_011521736.1:c.1549-416del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520038.1:n.1549-416del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1627,
          "endIntronDirection": "-",
          "endIntronOffset": 9302,
          "referenceAllele": "T",
          "start": 1627,
          "startIntronDirection": "-",
          "startIntronOffset": 9303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025999",
      "geneNCBI_id": 54893,
      "geneSymbol": "MTMR10",
      "hgvs": [
        "XM_011521737.1:c.1549-9303del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520039.1:n.1549-9303del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088896"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2915,
          "referenceAllele": "A",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_005254232.4:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254289.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "XP_005254289.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534084"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2790,
          "referenceAllele": "A",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_005254234.5:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254291.1:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "XP_005254291.1:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1600,
          "referenceAllele": "A",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_011521370.2:c.1434del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519672.1:p.Asp479ThrfsTer17",
        "hgvsWellDefined": "XP_011519672.1:p.[Asp479_Thr483delinsThrAlaSer;Arg485_Pro487delinsGln;Leu489_Glu490delinsAsp;Arg492_Gln494delinsGlnPro;Ile496_Ala499delinsArg;Glu501_Glu502delinsGlyCys;Leu504_Val508del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1627,
          "endIntronDirection": "-",
          "endIntronOffset": 9302,
          "referenceAllele": "T",
          "start": 1627,
          "startIntronDirection": "-",
          "startIntronOffset": 9303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025999",
      "geneNCBI_id": 54893,
      "geneSymbol": "MTMR10",
      "hgvs": [
        "XM_011521737.3:c.1549-9303del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520039.1:n.1549-9303del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546290"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2641,
          "referenceAllele": "A",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_017022012.2:c.945del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877501.1:p.Asp316ThrfsTer17",
        "hgvsWellDefined": "XP_016877501.1:p.[Asp316_Thr320delinsThrAlaSer;Arg322_Pro324delinsGln;Leu326_Glu327delinsAsp;Arg329_Gln331delinsGlnPro;Ile333_Ala336delinsArg;Glu338_Glu339delinsGlyCys;Leu341_Val345del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2690,
          "referenceAllele": "A",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_017022013.1:c.945del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877502.1:p.Asp316ThrfsTer17",
        "hgvsWellDefined": "XP_016877502.1:p.[Asp316_Thr320delinsThrAlaSer;Arg322_Pro324delinsGln;Leu326_Glu327delinsAsp;Arg329_Gln331delinsGlnPro;Ile333_Ala336delinsArg;Glu338_Glu339delinsGlyCys;Leu341_Val345del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2924,
          "referenceAllele": "A",
          "start": 2923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XM_024449874.1:c.1431del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305642.1:p.Asp478ThrfsTer17",
        "hgvsWellDefined": "XP_024305642.1:p.[Asp478_Thr482delinsThrAlaSer;Arg484_Pro486delinsGln;Leu488_Glu489delinsAsp;Arg491_Gln493delinsGlnPro;Ile495_Ala498delinsArg;Glu500_Glu501delinsGlyCys;Leu503_Val507del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583416"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4860,
          "referenceAllele": "A",
          "start": 4859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XR_001751149.1:n.4860del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4856,
          "referenceAllele": "A",
          "start": 4855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XR_001751151.1:n.4856del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2865,
          "referenceAllele": "A",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "NM_014967.5:c.2616del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055782.3:p.Asp873ThrfsTer17",
        "hgvsWellDefined": "NP_055782.3:p.[Asp873_Thr877delinsThrAlaSer;Arg879_Pro881delinsGln;Leu883_Glu884delinsAsp;Arg886_Gln888delinsGlnPro;Ile890_Ala893delinsArg;Glu895_Glu896delinsGlyCys;Leu898_Val902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362065.9:c.2616del"
          },
          "RefSeq": {
            "hgvs": "NM_014967.5:c.2616del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354497.4:p.Asp873ThrfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_055782.3:p.Asp873ThrfsTer17"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}