{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346081",
  "communityStandardTitle": [
    "NM_001288705.3(CSF1R):c.2655-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171826[alleleid]",
        "alleleId": 171826,
        "preferredName": "NM_001288705.3(CSF1R):c.2655-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162117",
        "RCV": [
          "RCV000149529"
        ],
        "variationId": 162117
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149433995T>C?assembly=hg19",
        "id": "chr5:g.149433995T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150054432T>C?assembly=hg38",
        "id": "chr5:g.150054432T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/690016554",
        "rs": 690016554
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150054432,
          "referenceAllele": "T",
          "start": 150054431
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150054432T>C",
        "CM000667.2:g.150054432T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149433995,
          "referenceAllele": "T",
          "start": 149433994
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149433995T>C",
        "CM000667.1:g.149433995T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149414188,
          "referenceAllele": "T",
          "start": 149414187
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149414188T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63941,
          "referenceAllele": "A",
          "start": 63940
        }
      ],
      "hgvs": [
        "NG_012303.1:g.63941A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58827,
          "referenceAllele": "T",
          "start": 58826
        }
      ],
      "hgvs": [
        "NG_021389.1:g.58827T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63941,
          "referenceAllele": "A",
          "start": 63940
        }
      ],
      "hgvs": [
        "NG_012303.2:g.63941A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2781,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000675795.1:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501699.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.2655-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.2655-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:n.2655-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:n.2655-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2946,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2946,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000286301.7:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286301.3:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2654,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2654,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000504875.5:c.*476-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422212.1:n.*476-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000509861.1:n.389A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2867,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2867,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.1:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2946,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2946,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.3:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2704,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2704,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.1:n.2705-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.2:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3027,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3027,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.1:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2781,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.3:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.2655-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.2655-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:n.2655-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:n.2655-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3044,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3044,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375320.1:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362249.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2710,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2710,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375321.1:c.2211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362250.1:n.2211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2547,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2547,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_164679.1:n.2548-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3025,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3025,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.2:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2939,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2939,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.4:c.2655-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:n.2655-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727600"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2618,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.2:n.2619-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730686"
    }
  ],
  "type": "nucleotide"
}