{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275904",
  "communityStandardTitle": [
    "NC_000009.12:g.37426657_37426660del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200629[alleleid]",
        "alleleId": 200629,
        "preferredName": "NM_012203.2(GRHPR):c.404+3_404+6del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204250",
        "RCV": [
          "RCV000186457",
          "RCV001057355"
        ],
        "variationId": 204250
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-37426649-GAAGT-G",
        "id": "9-37426649-GAAGT-G",
        "variant": "9:37426649 GAAGT / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37426654_37426657del?assembly=hg19",
        "id": "chr9:g.37426654_37426657del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37426650_37426653del?assembly=hg19",
        "id": "chr9:g.37426650_37426653del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37426657_37426660del?assembly=hg38",
        "id": "chr9:g.37426657_37426660del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37426653_37426656del?assembly=hg38",
        "id": "chr9:g.37426653_37426656del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177309",
        "rs": 180177309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37426649-GAAGT-G?dataset=gnomad_r2_1",
        "id": "9-37426649-GAAGT-G",
        "variant": "9:37426649 GAAGT / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37426652-GAAGT-G?dataset=gnomad_r3",
        "id": "9-37426652-GAAGT-G",
        "variant": "9:37426652 GAAGT / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37426652-GAAGT-G?dataset=gnomad_r4",
        "id": "9-37426652-GAAGT-G",
        "variant": "9:37426652 GAAGT / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 37426660,
          "referenceAllele": "AAGT",
          "start": 37426656
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37426657_37426660del",
        "CM000671.2:g.37426657_37426660del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 37426657,
          "referenceAllele": "AAGT",
          "start": 37426653
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37426654_37426657del",
        "CM000671.1:g.37426654_37426657del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 37416657,
          "referenceAllele": "AAGT",
          "start": 37416653
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37416654_37416657del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8951,
          "referenceAllele": "AAGT",
          "start": 8947
        }
      ],
      "hgvs": [
        "NG_008135.1:g.8948_8951del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS746197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.441+3_441+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.431+3_431+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 1823,
          "referenceAllele": "AAGT",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.110-1827_110-1824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000493368.5:n.461+3_461+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1823,
          "referenceAllele": "AAGT",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.84-1827_84-1824del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:n.84-1827_84-1824del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.-359+3_-359+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.489+3_489+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.-359+3_-359+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.677+3_677+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.677+3_677+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.692+3_692+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.692+3_692+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.463+3_463+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1823,
          "referenceAllele": "AAGT",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.139-1827_139-1824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.463+3_463+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.404+3_404+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS667943"
    }
  ],
  "type": "nucleotide"
}