{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA539536376",
  "communityStandardTitle": [
    "NM_173076.3(ABCA12):c.5012dup (p.Asn1671LysfsTer2)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1405240",
        "active": true,
        "id": "COSM1405240"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5066375",
        "active": true,
        "id": "COSM5066375"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2966917[alleleid]",
        "alleleId": 2966917,
        "preferredName": "NM_173076.3(ABCA12):c.5012dup (p.Asn1671fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2803236",
        "RCV": [
          "RCV003679410"
        ],
        "variationId": 2803236
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215843156_215843157insT?assembly=hg19",
        "id": "chr2:g.215843156_215843157insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.214978432_214978433insT?assembly=hg38",
        "id": "chr2:g.214978432_214978433insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906285",
        "rs": 387906285
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215843155-A-AT?dataset=gnomad_r2_1",
        "id": "2-215843155-A-AT",
        "variant": "2:215843155 A / AT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 214978438,
          "referenceAllele": "",
          "start": 214978438
        }
      ],
      "hgvs": [
        "NC_000002.12:g.214978438dup",
        "CM000664.2:g.214978438dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 215843162,
          "referenceAllele": "",
          "start": 215843162
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215843162dup",
        "CM000664.1:g.215843162dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 215551407,
          "referenceAllele": "",
          "start": 215551407
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215551407dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164996,
          "referenceAllele": "",
          "start": 164996
        }
      ],
      "hgvs": [
        "NG_007074.1:g.164996dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000454"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5430,
          "referenceAllele": "",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.12:c.5012dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Asn1671LysfsTer2",
        "hgvsWellDefined": "ENSP00000272895.7:p.[Asn1671_Gln1681del;Lys1683_Val1700del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.5012dup"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.5012dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Asn1671LysfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Asn1671LysfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5232,
          "referenceAllele": "",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.11:c.5012dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Asn1671LysfsTer2",
        "hgvsWellDefined": "ENSP00000272895.7:p.[Asn1671_Gln1681del;Lys1683_Val1700del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4217,
          "referenceAllele": "",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000389661.4:c.4058dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374312.4:p.Asn1353LysfsTer2",
        "hgvsWellDefined": "ENSP00000374312.4:p.[Asn1353_Gln1363del;Lys1365_Val1382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4217,
          "referenceAllele": "",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.3:c.4058dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Asn1353LysfsTer2",
        "hgvsWellDefined": "NP_056472.2:p.[Asn1353_Gln1363del;Lys1365_Val1382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5232,
          "referenceAllele": "",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.2:c.5012dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Asn1671LysfsTer2",
        "hgvsWellDefined": "NP_775099.2:p.[Asn1671_Gln1681del;Lys1683_Val1700del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5312,
          "referenceAllele": "",
          "start": 5312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.1:n.5312dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5393,
          "referenceAllele": "",
          "start": 5393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.1:c.5021dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Asn1674LysfsTer2",
        "hgvsWellDefined": "XP_011509253.1:p.[Asn1674_Gln1684del;Lys1686_Val1703del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5393,
          "referenceAllele": "",
          "start": 5393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510952.1:c.5021dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509254.1:p.Asn1674LysfsTer2",
        "hgvsWellDefined": "XP_011509254.1:p.[Asn1674_Gln1684del;Lys1686_Val1703del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5404,
          "referenceAllele": "",
          "start": 5404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.2:c.5021dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Asn1674LysfsTer2",
        "hgvsWellDefined": "XP_011509253.1:p.[Asn1674_Gln1684del;Lys1686_Val1703del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5430,
          "referenceAllele": "",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.3:c.5012dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Asn1671LysfsTer2",
        "hgvsWellDefined": "NP_775099.2:p.[Asn1671_Gln1681del;Lys1683_Val1700del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.5012dup"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.5012dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Asn1671LysfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Asn1671LysfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5510,
          "referenceAllele": "",
          "start": 5510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.2:n.5510dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4217,
          "referenceAllele": "",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.4:c.4058dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Asn1353LysfsTer2",
        "hgvsWellDefined": "NP_056472.2:p.[Asn1353_Gln1363del;Lys1365_Val1382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728101"
    }
  ],
  "type": "nucleotide"
}