{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658824994",
  "communityStandardTitle": [
    "NM_031293.3(PMFBP1):c.2092del (p.Ala698ProfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=551502[alleleid]",
        "alleleId": 551502,
        "preferredName": "NM_031293.3(PMFBP1):c.2092del (p.Ala698fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/560419",
        "RCV": [
          "RCV000678508"
        ],
        "variationId": 560419
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.72160028del?assembly=hg19",
        "id": "chr16:g.72160028del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.72126129del?assembly=hg38",
        "id": "chr16:g.72126129del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1567621034",
        "rs": 1567621034
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 72126129,
          "referenceAllele": "C",
          "start": 72126128
        }
      ],
      "hgvs": [
        "NC_000016.10:g.72126129del",
        "CM000678.2:g.72126129del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 72160028,
          "referenceAllele": "C",
          "start": 72160027
        }
      ],
      "hgvs": [
        "NC_000016.9:g.72160028del",
        "CM000678.1:g.72160028del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 70717529,
          "referenceAllele": "C",
          "start": 70717528
        }
      ],
      "hgvs": [
        "NC_000016.8:g.70717529del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "ENST00000237353.15:c.2092del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237353.10:p.Ala698ProfsTer7",
        "hgvsWellDefined": "ENSP00000237353.10:p.[Ala698_Glu702delinsProPheArgArg;Leu704_Thr727delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237353.15:c.2092del"
          },
          "RefSeq": {
            "hgvs": "NM_031293.3:c.2092del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237353.10:p.Ala698ProfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_112583.2:p.Ala698ProfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2354,
          "referenceAllele": "G",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "ENST00000237353.14:c.2092del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237353.10:p.Ala698ProfsTer7",
        "hgvsWellDefined": "ENSP00000237353.10:p.[Ala698_Glu702delinsProPheArgArg;Leu704_Thr727delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "ENST00000355636.10:c.1657del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347854.6:p.Ala553ProfsTer7",
        "hgvsWellDefined": "ENSP00000347854.6:p.[Ala553_Glu557delinsProPheArgArg;Leu559_Thr582delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "ENST00000379073.9:c.*1902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368364.5:n.*1902del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272325"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1694,
          "referenceAllele": "G",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "ENST00000537392.1:c.1694del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439564.1:n.1694del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2266,
          "referenceAllele": "G",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "ENST00000537465.5:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443817.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "ENSP00000443817.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360787"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "NM_001160213.1:c.1657del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153685.1:p.Ala553ProfsTer7",
        "hgvsWellDefined": "NP_001153685.1:p.[Ala553_Glu557delinsProPheArgArg;Leu559_Thr582delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2264,
          "referenceAllele": "G",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "NM_031293.2:c.2092del"
      ],
      "proteinEffect": {
        "hgvs": "NP_112583.2:p.Ala698ProfsTer7",
        "hgvsWellDefined": "NP_112583.2:p.[Ala698_Glu702delinsProPheArgArg;Leu704_Thr727delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038586"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523356.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521658.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521658.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2369,
          "referenceAllele": "G",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523357.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521659.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521659.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090495"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523358.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521660.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521660.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090496"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2473,
          "referenceAllele": "G",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523359.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521661.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521661.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2332,
          "referenceAllele": "G",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523360.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521662.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521662.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090498"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2794,
          "referenceAllele": "G",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523361.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521663.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521663.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2115,
          "referenceAllele": "G",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523362.1:c.2098del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521664.1:p.Ala700ProfsTer7",
        "hgvsWellDefined": "XP_011521664.1:p.[Ala700_Glu704delinsProPheArgArg;Leu706_Thr729delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090500"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2417,
          "referenceAllele": "G",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523363.1:c.2092del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521665.1:p.Ala698ProfsTer7",
        "hgvsWellDefined": "XP_011521665.1:p.[Ala698_Glu702delinsProPheArgArg;Leu704_Thr727delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090501"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523364.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521666.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521666.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090502"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2413,
          "referenceAllele": "G",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523365.1:c.2092del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521667.1:p.Ala698ProfsTer7",
        "hgvsWellDefined": "XP_011521667.1:p.[Ala698_Glu702delinsProPheArgArg;Leu704_Thr727delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2431,
          "referenceAllele": "G",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523366.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521668.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521668.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090504"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2427,
          "referenceAllele": "G",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523367.1:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521669.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521669.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090505"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2212,
          "referenceAllele": "G",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523368.1:c.1885del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521670.1:p.Ala629ProfsTer7",
        "hgvsWellDefined": "XP_011521670.1:p.[Ala629_Glu633delinsProPheArgArg;Leu635_Thr658delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090506"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XR_933453.1:n.2432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128995"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2369,
          "referenceAllele": "G",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523357.3:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521659.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521659.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523358.3:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521660.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521660.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2332,
          "referenceAllele": "G",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523360.3:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521662.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521662.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547000"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2807,
          "referenceAllele": "G",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523361.3:c.2107del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521663.1:p.Ala703ProfsTer7",
        "hgvsWellDefined": "XP_011521663.1:p.[Ala703_Glu707delinsProPheArgArg;Leu709_Thr732delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2115,
          "referenceAllele": "G",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "XM_011523362.3:c.2098del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521664.1:p.Ala700ProfsTer7",
        "hgvsWellDefined": "XP_011521664.1:p.[Ala700_Glu704delinsProPheArgArg;Leu706_Thr729delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "NM_031293.3:c.2092del"
      ],
      "proteinEffect": {
        "hgvs": "NP_112583.2:p.Ala698ProfsTer7",
        "hgvsWellDefined": "NP_112583.2:p.[Ala698_Glu702delinsProPheArgArg;Leu704_Thr727delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237353.15:c.2092del"
          },
          "RefSeq": {
            "hgvs": "NM_031293.3:c.2092del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237353.10:p.Ala698ProfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_112583.2:p.Ala698ProfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2462,
          "referenceAllele": "G",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017728",
      "geneNCBI_id": 83449,
      "geneSymbol": "PMFBP1",
      "hgvs": [
        "NM_001160213.2:c.1657del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153685.1:p.Ala553ProfsTer7",
        "hgvsWellDefined": "NP_001153685.1:p.[Ala553_Glu557delinsProPheArgArg;Leu559_Thr582delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712969"
    }
  ],
  "type": "nucleotide"
}