{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16614857",
  "communityStandardTitle": [
    "NM_130810.4(DNAAF4):c.165_167delinsCT (p.Pro56SerfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=401065[alleleid]",
        "alleleId": 401065,
        "preferredName": "NM_130810.4(DNAAF4):c.165_167delinsCT (p.Pro56fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410963",
        "RCV": [
          "RCV000460798"
        ],
        "variationId": 410963
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503095",
        "rs": 1060503095
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "AG",
          "end": 55497818,
          "referenceAllele": "GGA",
          "start": 55497815
        }
      ],
      "hgvs": [
        "NC_000015.10:g.55497816_55497818delinsAG",
        "CM000677.2:g.55497816_55497818delinsAG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "AG",
          "end": 55790016,
          "referenceAllele": "GGA",
          "start": 55790013
        }
      ],
      "hgvs": [
        "NC_000015.9:g.55790014_55790016delinsAG",
        "CM000677.1:g.55790014_55790016delinsAG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "AG",
          "end": 53577308,
          "referenceAllele": "GGA",
          "start": 53577305
        }
      ],
      "hgvs": [
        "NC_000015.8:g.53577306_53577308delinsAG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 15419,
          "referenceAllele": "TCC",
          "start": 15416
        }
      ],
      "hgvs": [
        "NG_021213.1:g.15417_15419delinsCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000321149.7:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323275.3:p.Pro56SerfsTer2",
        "hgvsWellDefined": "ENSP00000323275.3:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257902",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321149.7:c.165_167delinsCT"
          },
          "RefSeq": {
            "hgvs": "NM_130810.4:c.165_167delinsCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323275.3:p.Pro56SerfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_570722.2:p.Pro56SerfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 439,
          "referenceAllele": "TCC",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000348518.4:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299561.5:p.Pro56SerfsTer2",
        "hgvsWellDefined": "ENSP00000299561.5:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262485"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 186,
          "referenceAllele": "TCC",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000448430.6:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403412.2:p.Pro56SerfsTer2",
        "hgvsWellDefined": "ENSP00000403412.2:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299726"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 215,
          "referenceAllele": "TCC",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000457155.6:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402640.2:p.Pro56SerfsTer2",
        "hgvsWellDefined": "ENSP00000402640.2:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303817"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 182,
          "referenceAllele": "TCC",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000519017.1:n.180_182delinsCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346344"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 163,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "TCC",
          "start": 163,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000522437.1:c.124-8_124-6delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429219.1:n.124-8_124-6delinsCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349055"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 179,
          "referenceAllele": "TCC",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "ENST00000524160.5:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428097.1:p.Pro56SerfsTer2",
        "hgvsWellDefined": "ENSP00000428097.1:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350376"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "NM_001033559.2:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028731.1:p.Pro56SerfsTer2",
        "hgvsWellDefined": "NP_001028731.1:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009137"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "NM_001033560.1:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028732.1:p.Pro56SerfsTer2",
        "hgvsWellDefined": "NP_001028732.1:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009138"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "NM_130810.3:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_570722.2:p.Pro56SerfsTer2",
        "hgvsWellDefined": "NP_570722.2:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040422"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 422,
          "referenceAllele": "TCC",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043019",
      "geneNCBI_id": 100533483,
      "geneSymbol": "DNAAF4-CCPG1",
      "hgvs": [
        "NR_037923.1:n.420_422delinsCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050201"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "NM_130810.4:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_570722.2:p.Pro56SerfsTer2",
        "hgvsWellDefined": "NP_570722.2:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321149.7:c.165_167delinsCT"
          },
          "RefSeq": {
            "hgvs": "NM_130810.4:c.165_167delinsCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323275.3:p.Pro56SerfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_570722.2:p.Pro56SerfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "NM_001033559.3:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028731.1:p.Pro56SerfsTer2",
        "hgvsWellDefined": "NP_001028731.1:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711527"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 535,
          "referenceAllele": "TCC",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021493",
      "geneNCBI_id": 161582,
      "geneSymbol": "DNAAF4",
      "hgvs": [
        "NM_001033560.2:c.165_167delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028732.1:p.Pro56SerfsTer2",
        "hgvsWellDefined": "NP_001028732.1:p.[Pro56_Glu60del;Ser62_Thr85del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711528"
    }
  ],
  "type": "nucleotide"
}