{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16612688",
  "communityStandardTitle": [
    "NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397019[alleleid]",
        "alleleId": 397019,
        "preferredName": "NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409098",
        "RCV": [
          "RCV002230825"
        ],
        "variationId": 409098
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137726821_137726823del?assembly=hg19",
        "id": "chr9:g.137726821_137726823del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134834975_134834977del?assembly=hg38",
        "id": "chr9:g.134834975_134834977del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502250",
        "rs": 1060502250
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 134834977,
          "referenceAllele": "CCT",
          "start": 134834974
        }
      ],
      "hgvs": [
        "NC_000009.12:g.134834975_134834977del",
        "CM000671.2:g.134834975_134834977del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 137726823,
          "referenceAllele": "CCT",
          "start": 137726820
        }
      ],
      "hgvs": [
        "NC_000009.11:g.137726821_137726823del",
        "CM000671.1:g.137726821_137726823del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 136866644,
          "referenceAllele": "CCT",
          "start": 136866641
        }
      ],
      "hgvs": [
        "NC_000009.10:g.136866642_136866644del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 198172,
          "referenceAllele": "CCT",
          "start": 198169
        }
      ],
      "hgvs": [
        "NG_008030.1:g.198170_198172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000787"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5528,
          "referenceAllele": "CCT",
          "start": 5525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.4:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360885.4:p.Ser1714del",
        "hgvsWellDefined": "ENSP00000360885.4:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5528,
          "referenceAllele": "CCT",
          "start": 5525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.8:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:p.Ser1714del",
        "hgvsWellDefined": "ENSP00000360882.3:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.5141_5143del"
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.5141_5143del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:p.Ser1714del"
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:p.Ser1714del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5557,
          "referenceAllele": "CCT",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.7:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:p.Ser1714del",
        "hgvsWellDefined": "ENSP00000360882.3:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 401,
          "referenceAllele": "CCT",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.3:c.399_401del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS268770"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5526,
          "referenceAllele": "CCT",
          "start": 5523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000618395.4:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481360.1:p.Ser1714del",
        "hgvsWellDefined": "ENSP00000481360.1:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825063171",
      "coordinates": [
        {
          "allele": "",
          "end": 5526,
          "referenceAllele": "CCT",
          "start": 5523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.4:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:p.Ser1714del",
        "hgvsWellDefined": "NP_000084.3:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645499633",
      "coordinates": [
        {
          "allele": "",
          "end": 5526,
          "referenceAllele": "CCT",
          "start": 5523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_001278074.1:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265003.1:p.Ser1714del",
        "hgvsWellDefined": "NP_001265003.1:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70,
          "endIntronDirection": "-",
          "endIntronOffset": 14763,
          "referenceAllele": "GGA",
          "start": 70,
          "startIntronDirection": "-",
          "startIntronOffset": 14766
        }
      ],
      "hgvs": [
        "NR_103451.2:n.71-14766_71-14764del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5827,
          "referenceAllele": "CCT",
          "start": 5824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929712.1:n.5825_5827del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5695,
          "referenceAllele": "CCT",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929713.1:n.5693_5695del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825063171",
      "coordinates": [
        {
          "allele": "",
          "end": 5528,
          "referenceAllele": "CCT",
          "start": 5525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.5:c.5141_5143del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:p.Ser1714del",
        "hgvsWellDefined": "NP_000084.3:p.Ser1714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.5141_5143del"
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.5141_5143del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:p.Ser1714del"
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:p.Ser1714del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}