{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041330",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.515del (p.Leu172ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357814[alleleid]",
        "alleleId": 357814,
        "preferredName": "NM_012203.2(GRHPR):c.515del (p.Leu172fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371081",
        "RCV": [
          "RCV000409258"
        ],
        "variationId": 371081
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37429750del?assembly=hg19",
        "id": "chr9:g.37429750del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37429753del?assembly=hg38",
        "id": "chr9:g.37429753del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516990",
        "rs": 1057516990
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 37429753,
          "referenceAllele": "T",
          "start": 37429752
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37429753del",
        "CM000671.2:g.37429753del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 37429750,
          "referenceAllele": "T",
          "start": 37429749
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37429750del",
        "CM000671.1:g.37429750del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 37419750,
          "referenceAllele": "T",
          "start": 37419749
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37419750del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12044,
          "referenceAllele": "T",
          "start": 12043
        }
      ],
      "hgvs": [
        "NG_008135.1:g.12044del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "ENSP00000313432.6:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.515del"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.515del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Leu172ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Leu172ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 600,
          "referenceAllele": "T",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "ENSP00000313432.6:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 552,
          "referenceAllele": "T",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.552del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.542del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000480596.5:n.1216del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320706"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.220del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 759,
          "referenceAllele": "T",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000494290.1:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432021.1:p.Leu29ArgfsTer?",
        "hgvsWellDefined": "ENSP00000432021.1:p.[Leu29_Gly33delinsArgAsnHisSer;Gln35Ser;Phe37_Tyr39delinsAspPheCys;Thr40_Gly41insGln;Arg42_Gln43delinsAlaSer;Arg45_Ser58delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2048,
          "referenceAllele": "T",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000497693.1:n.2048del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "ENSP00000475569.1:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "referenceAllele": "T",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "NP_036335.1:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 249,
          "referenceAllele": "T",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.194del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:p.Leu65ArgfsTer?",
        "hgvsWellDefined": "XP_005251688.1:p.[Leu65_Gly69delinsArgAsnHisSer;Gln71Ser;Phe73_Tyr75delinsAspPheCys;Thr76_Gly77insGln;Arg78_Gln79delinsAlaSer;Arg81_Ser94delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 906,
          "referenceAllele": "T",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.113del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:p.Leu38ArgfsTer?",
        "hgvsWellDefined": "XP_011516375.1:p.[Leu38_Gly42delinsArgAsnHisSer;Gln44Ser;Phe46_Tyr48delinsAspPheCys;Thr49_Gly50insGln;Arg51_Gln52delinsAlaSer;Arg54_Ser67delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 960,
          "referenceAllele": "T",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.960del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "XP_016870809.1:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "XP_016870810.1:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 931,
          "referenceAllele": "T",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.113del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:p.Leu38ArgfsTer?",
        "hgvsWellDefined": "XP_016870812.1:p.[Leu38_Gly42delinsArgAsnHisSer;Gln44Ser;Phe46_Tyr48delinsAspPheCys;Thr49_Gly50insGln;Arg51_Gln52delinsAlaSer;Arg54_Ser67delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.788del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:p.Leu263ArgfsTer?",
        "hgvsWellDefined": "XP_024303484.1:p.[Leu263_Gly267delinsArgAsnHisSer;Gln269Ser;Phe271_Tyr273delinsAspPheCys;Thr274_Gly275insGln;Arg276_Gln277delinsAlaSer;Arg279_Ser292delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.788del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:p.Leu263ArgfsTer?",
        "hgvsWellDefined": "XP_024303485.1:p.[Leu263_Gly267delinsArgAsnHisSer;Gln269Ser;Phe271_Tyr273delinsAspPheCys;Thr274_Gly275insGln;Arg276_Gln277delinsAlaSer;Arg279_Ser292delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.803del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.803del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 574,
          "referenceAllele": "T",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.574del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 249,
          "referenceAllele": "T",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.249del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 934,
          "referenceAllele": "T",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.934del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.515del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Leu172ArgfsTer?",
        "hgvsWellDefined": "NP_036335.1:p.[Leu172_Gly176delinsArgAsnHisSer;Gln178Ser;Phe180_Tyr182delinsAspPheCys;Thr183_Gly184insGln;Arg185_Gln186delinsAlaSer;Arg188_Ser201delinsGlyLeuArgLysGlnGlnAsnSerArgGlnSerLeuCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.515del"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.515del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Leu172ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Leu172ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}