{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7066034",
  "communityStandardTitle": [
    "NM_002929.3(GRK1):c.142_145del (p.Glu48ProfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=858597[alleleid]",
        "alleleId": 858597,
        "preferredName": "NM_002929.3(GRK1):c.142_145del (p.Glu48fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/870427",
        "RCV": [
          "RCV001175389"
        ],
        "variationId": 870427
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-114321840-TGTGA-T",
        "id": "13-114321840-TGTGA-T",
        "variant": "13:114321840 TGTGA / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.114321841_114321844del?assembly=hg19",
        "id": "chr13:g.114321841_114321844del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113667526_113667529del?assembly=hg38",
        "id": "chr13:g.113667526_113667529del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748680704",
        "rs": 748680704
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-114321840-TGTGA-T?dataset=gnomad_r2_1",
        "id": "13-114321840-TGTGA-T",
        "variant": "13:114321840 TGTGA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113667525-TGTGA-T?dataset=gnomad_r4",
        "id": "13-113667525-TGTGA-T",
        "variant": "13:113667525 TGTGA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 113667531,
          "referenceAllele": "GAGT",
          "start": 113667527
        }
      ],
      "hgvs": [
        "NC_000013.11:g.113667528_113667531del",
        "CM000675.2:g.113667528_113667531del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 114321846,
          "referenceAllele": "GAGT",
          "start": 114321842
        }
      ],
      "hgvs": [
        "NC_000013.10:g.114321843_114321846del",
        "CM000675.1:g.114321843_114321846del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 113369847,
          "referenceAllele": "GAGT",
          "start": 113369843
        }
      ],
      "hgvs": [
        "NC_000013.9:g.113369844_113369847del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 313,
          "referenceAllele": "GAGT",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010013",
      "geneNCBI_id": 6011,
      "geneSymbol": "GRK1",
      "hgvs": [
        "ENST00000335678.7:c.142_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334876.5:p.Glu48ProfsTer?",
        "hgvsWellDefined": "ENSP00000334876.5:p.[Glu48Pro;Leu50_Asp52delinsAlaThrAla;Leu54delinsAlaTrp;Glu57_Ser60delinsArg;Leu63_Gln65delinsAlaTrpSerSer;Ile67_Leu71delinsSerAlaArgSerSer;Gln73_Ser78delinsSerSerSerTyrAsnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747515",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335678.7:c.142_145del"
          },
          "RefSeq": {
            "hgvs": "NM_002929.3:c.142_145del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334876.5:p.Glu48ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002920.1:p.Glu48ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 377,
          "referenceAllele": "GAGT",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010013",
      "geneNCBI_id": 6011,
      "geneSymbol": "GRK1",
      "hgvs": [
        "ENST00000335678.6:c.142_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334876.5:p.Glu48ProfsTer?",
        "hgvsWellDefined": "ENSP00000334876.5:p.[Glu48Pro;Leu50_Asp52delinsAlaThrAla;Leu54delinsAlaTrp;Glu57_Ser60delinsArg;Leu63_Gln65delinsAlaTrpSerSer;Ile67_Leu71delinsSerAlaArgSerSer;Gln73_Ser78delinsSerSerSerTyrAsnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260172"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 253,
          "referenceAllele": "GAGT",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010013",
      "geneNCBI_id": 6011,
      "geneSymbol": "GRK1",
      "hgvs": [
        "NM_002929.2:c.142_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002920.1:p.Glu48ProfsTer?",
        "hgvsWellDefined": "NP_002920.1:p.[Glu48Pro;Leu50_Asp52delinsAlaThrAla;Leu54delinsAlaTrp;Glu57_Ser60delinsArg;Leu63_Gln65delinsAlaTrpSerSer;Ile67_Leu71delinsSerAlaArgSerSer;Gln73_Ser78delinsSerSerSerTyrAsnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2474,
          "endIntronDirection": "-",
          "endIntronOffset": 2155,
          "referenceAllele": "GAGT",
          "start": 2474,
          "startIntronDirection": "-",
          "startIntronOffset": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010013",
      "geneNCBI_id": 6011,
      "geneSymbol": "GRK1",
      "hgvs": [
        "XM_017020684.1:c.-6-2159_-6-2156del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876173.1:n.-6-2159_-6-2156del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572103"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 313,
          "referenceAllele": "GAGT",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010013",
      "geneNCBI_id": 6011,
      "geneSymbol": "GRK1",
      "hgvs": [
        "NM_002929.3:c.142_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002920.1:p.Glu48ProfsTer?",
        "hgvsWellDefined": "NP_002920.1:p.[Glu48Pro;Leu50_Asp52delinsAlaThrAla;Leu54delinsAlaTrp;Glu57_Ser60delinsArg;Leu63_Gln65delinsAlaTrpSerSer;Ile67_Leu71delinsSerAlaArgSerSer;Gln73_Ser78delinsSerSerSerTyrAsnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335678.7:c.142_145del"
          },
          "RefSeq": {
            "hgvs": "NM_002929.3:c.142_145del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334876.5:p.Glu48ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002920.1:p.Glu48ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}