{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA048710",
  "communityStandardTitle": [
    "NM_000760.4(CSF3R):c.948_963del (p.His317AlafsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171706[alleleid]",
        "alleleId": 171706,
        "preferredName": "NM_000760.4(CSF3R):c.948_963del (p.His317fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242629",
        "RCV": [
          "RCV000234852"
        ],
        "variationId": 242629
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.36937873_36937888del?assembly=hg19",
        "id": "chr1:g.36937873_36937888del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.36472272_36472287del?assembly=hg38",
        "id": "chr1:g.36472272_36472287del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/606231475",
        "rs": 606231475
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 36472291,
          "referenceAllele": "TCGCTCCAGTGGCCAG",
          "start": 36472275
        }
      ],
      "hgvs": [
        "NC_000001.11:g.36472276_36472291del",
        "CM000663.2:g.36472276_36472291del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 36937892,
          "referenceAllele": "TCGCTCCAGTGGCCAG",
          "start": 36937876
        }
      ],
      "hgvs": [
        "NC_000001.10:g.36937877_36937892del",
        "CM000663.1:g.36937877_36937892del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 36710479,
          "referenceAllele": "TCGCTCCAGTGGCCAG",
          "start": 36710463
        }
      ],
      "hgvs": [
        "NC_000001.9:g.36710464_36710479del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 15637,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 15621
        }
      ],
      "hgvs": [
        "NG_016270.1:g.15622_15637del",
        "LRG_144:g.15622_15637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003061"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1146,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000464465.7:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435218.2:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000435218.2:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914109"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1146,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000487540.7:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514169.2:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000514169.2:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914149"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1821,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000464365.3:n.1806_1821del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905112"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1943,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000699089.1:n.1928_1943del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910033"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1345,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000699090.1:c.552_567del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514168.1:p.His185AlafsTer6",
        "hgvsWellDefined": "ENSP00000514168.1:p.[His185_Ser190delinsAla;Ser192_Arg200del;Pro202_Thr208del;Trp210_Thr219delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910034"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1146,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000373106.6:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362198.2:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000362198.2:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373106.6:c.948_963del"
          },
          "RefSeq": {
            "hgvs": "NM_000760.4:c.948_963del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362198.2:p.His317AlafsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000751.1:p.His317AlafsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 986,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000331941.6:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332180.5:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000332180.5:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259489"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 986,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000361632.8:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355406.4:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000355406.4:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1511,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000373103.5:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362195.1:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000362195.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1511,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000373104.5:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362196.1:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000362196.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269500"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1511,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000373106.5:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362198.1:p.His317AlafsTer6",
        "hgvsWellDefined": "ENSP00000362198.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269502"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 638,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000464365.2:n.623_638del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2346,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000480825.6:n.2331_2346del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 116,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "ENST00000487540.6:n.101_116del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326081"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "NM_000760.3:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000751.1:p.His317AlafsTer6",
        "hgvsWellDefined": "NP_000751.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006792"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "NM_156039.3:c.948_963del",
        "LRG_144t1:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_724781.1:p.His317AlafsTer6",
        "hgvsWellDefined": "NP_724781.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042529"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "NM_172313.2:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758519.1:p.His317AlafsTer6",
        "hgvsWellDefined": "NP_758519.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042718"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "XM_005270493.1:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270550.1:p.His317AlafsTer6",
        "hgvsWellDefined": "XP_005270550.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "XM_011540748.1:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539050.1:p.His317AlafsTer6",
        "hgvsWellDefined": "XP_011539050.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "XM_011540749.1:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539051.1:p.His317AlafsTer6",
        "hgvsWellDefined": "XP_011539051.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 377,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "XM_011540750.1:c.276_291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539052.1:p.His93AlafsTer6",
        "hgvsWellDefined": "XP_011539052.1:p.[His93_Ser98delinsAla;Ser100_Arg108del;Pro110_Thr116del;Trp118_Thr127delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107694"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1065,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "XM_011540748.3:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539050.1:p.His317AlafsTer6",
        "hgvsWellDefined": "XP_011539050.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554167"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "XM_017000370.1:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855859.1:p.His317AlafsTer6",
        "hgvsWellDefined": "XP_016855859.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1146,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "NM_000760.4:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000751.1:p.His317AlafsTer6",
        "hgvsWellDefined": "NP_000751.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373106.6:c.948_963del"
          },
          "RefSeq": {
            "hgvs": "NM_000760.4:c.948_963del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362198.2:p.His317AlafsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000751.1:p.His317AlafsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1146,
          "referenceAllele": "TGGAGCGACTGGCCAC",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002439",
      "geneNCBI_id": 1441,
      "geneSymbol": "CSF3R",
      "hgvs": [
        "NM_172313.3:c.948_963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758519.1:p.His317AlafsTer6",
        "hgvsWellDefined": "NP_758519.1:p.[His317_Ser322delinsAla;Ser324_Arg332del;Pro334_Thr340del;Trp342_Thr351delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700520"
    }
  ],
  "type": "nucleotide"
}