{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573139287",
  "communityStandardTitle": [
    "NM_001288705.3(CSF1R):c.1084_1085delinsTG (p.His362Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1360477[alleleid]",
        "alleleId": 1360477,
        "preferredName": "NM_001288705.3(CSF1R):c.1084_1085inv (p.His362Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1360911",
        "RCV": [
          "RCV001865065"
        ],
        "variationId": 1360911
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "CA",
          "end": 150070570,
          "referenceAllele": "TG",
          "start": 150070568
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150070569_150070570delinsCA",
        "CM000667.2:g.150070569_150070570delinsCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "CA",
          "end": 149450133,
          "referenceAllele": "TG",
          "start": 149450131
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149450132_149450133delinsCA",
        "CM000667.1:g.149450132_149450133delinsCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "CA",
          "end": 149430326,
          "referenceAllele": "TG",
          "start": 149430324
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149430325_149430326delinsCA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 47804,
          "referenceAllele": "CA",
          "start": 47802
        }
      ],
      "hgvs": [
        "NG_012303.1:g.47803_47804delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002361"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 47804,
          "referenceAllele": "CA",
          "start": 47802
        }
      ],
      "hgvs": [
        "NG_012303.2:g.47803_47804delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1212,
          "referenceAllele": "CA",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000675795.1:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501699.1:p.His362Cys",
        "hgvsWellDefined": "ENSP00000501699.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.1084_1085delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.1084_1085delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.His362Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.His362Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1377,
          "referenceAllele": "CA",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000286301.7:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286301.3:p.His362Cys",
        "hgvsWellDefined": "ENSP00000286301.3:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253353"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1248,
          "referenceAllele": "CA",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000504875.5:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422212.1:p.His362Cys",
        "hgvsWellDefined": "ENSP00000422212.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336812"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 892,
          "referenceAllele": "CA",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000543093.1:c.891_892delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445282.1:p.Thr298Ala",
        "hgvsWellDefined": "ENSP00000445282.1:p.Thr298Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712685",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1298,
          "referenceAllele": "CA",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.1:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.His362Cys",
        "hgvsWellDefined": "NP_001275634.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573247186",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1377,
          "referenceAllele": "CA",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.3:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.His362Cys",
        "hgvsWellDefined": "NP_005202.2:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030323"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1298,
          "referenceAllele": "CA",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.1:n.1297_1298delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712685",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1361,
          "referenceAllele": "CA",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.2:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.His362Cys",
        "hgvsWellDefined": "NP_001275634.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827510812",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1458,
          "referenceAllele": "CA",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.1:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.His362Cys",
        "hgvsWellDefined": "NP_001336665.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712685",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1212,
          "referenceAllele": "CA",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.3:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.His362Cys",
        "hgvsWellDefined": "NP_001275634.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.1084_1085delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.1084_1085delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.His362Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.His362Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828578708",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1475,
          "referenceAllele": "CA",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375320.1:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362249.1:p.His362Cys",
        "hgvsWellDefined": "NP_001362249.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828579152",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1141,
          "referenceAllele": "CA",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375321.1:c.640_641delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362250.1:p.His214Cys",
        "hgvsWellDefined": "NP_001362250.1:p.His214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693468"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1141,
          "referenceAllele": "CA",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_164679.1:n.1140_1141delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827510812",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1456,
          "referenceAllele": "CA",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.2:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.His362Cys",
        "hgvsWellDefined": "NP_001336665.1:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573247186",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1370,
          "referenceAllele": "CA",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.4:c.1084_1085delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.His362Cys",
        "hgvsWellDefined": "NP_005202.2:p.His362Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727600"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1212,
          "referenceAllele": "CA",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.2:n.1211_1212delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730686"
    }
  ],
  "type": "nucleotide"
}