{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915946102",
  "communityStandardTitle": [
    "NM_001369268.1(ACAN):c.2541del (p.Val848CysfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=791495[alleleid]",
        "alleleId": 791495,
        "preferredName": "NM_001369268.1(ACAN):c.2541del (p.Val848fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/803118",
        "RCV": [
          "RCV000989372"
        ],
        "variationId": 803118
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1596144242",
        "rs": 1596144242
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-88855120-AC-A?dataset=gnomad_r4",
        "id": "15-88855120-AC-A",
        "variant": "15:88855120 AC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 88855126,
          "referenceAllele": "C",
          "start": 88855125
        }
      ],
      "hgvs": [
        "NC_000015.10:g.88855126del",
        "CM000677.2:g.88855126del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 89398357,
          "referenceAllele": "C",
          "start": 89398356
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89398357del",
        "CM000677.1:g.89398357del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 87199361,
          "referenceAllele": "C",
          "start": 87199360
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87199361del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 56684,
          "referenceAllele": "C",
          "start": 56683
        }
      ],
      "hgvs": [
        "NG_012794.1:g.56684del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002533"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2918,
          "referenceAllele": "C",
          "start": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000439576.7:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387356.2:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000560601.4:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453581.2:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760298",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000560601.4:c.2541del"
          },
          "RefSeq": {
            "hgvs": "NM_001369268.1:c.2541del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453581.2:p.Val848CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001356197.1:p.Val848CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2918,
          "referenceAllele": "C",
          "start": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000561243.7:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453342.3:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760318"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000352105.11:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341615.7:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2915,
          "referenceAllele": "C",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000439576.6:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387356.2:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295491"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000559004.5:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453499.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2541,
          "referenceAllele": "C",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000561243.5:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453342.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2915,
          "referenceAllele": "C",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "ENST00000617301.4:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484456.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403420"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2915,
          "referenceAllele": "C",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "NM_001135.3:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001126.3:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012323"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2915,
          "referenceAllele": "C",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "NM_013227.3:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037359.3:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2916,
          "referenceAllele": "C",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "XM_006720419.1:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720482.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073649"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2916,
          "referenceAllele": "C",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "XM_011521313.1:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519615.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088474"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2916,
          "referenceAllele": "C",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "XM_011521314.1:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519616.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088475"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "NM_001369268.1:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356197.1:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691576",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000560601.4:c.2541del"
          },
          "RefSeq": {
            "hgvs": "NM_001369268.1:c.2541del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453581.2:p.Val848CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001356197.1:p.Val848CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "NM_001135.4:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001126.3:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712410"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000319",
      "geneNCBI_id": 176,
      "geneSymbol": "ACAN",
      "hgvs": [
        "NM_013227.4:c.2541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037359.3:p.Val848CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727882"
    }
  ],
  "type": "nucleotide"
}