{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA425091858",
  "communityStandardTitle": [
    "NM_005378.6(MYCN):c.134del (p.Pro45ArgfsTer?)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1400341",
        "active": true,
        "id": "COSM1400341"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2672173[alleleid]",
        "alleleId": 2672173,
        "preferredName": "NM_005378.6(MYCN):c.134del (p.Pro45fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2507183",
        "RCV": [
          "RCV003239074",
          "RCV003985880"
        ],
        "variationId": 2507183
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.16082314del?assembly=hg19",
        "id": "chr2:g.16082314del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.15942192del?assembly=hg38",
        "id": "chr2:g.15942192del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780080562",
        "rs": 780080562
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-16082313-AC-A?dataset=gnomad_r2_1",
        "id": "2-16082313-AC-A",
        "variant": "2:16082313 AC / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-15942191-AC-A?dataset=gnomad_r4",
        "id": "2-15942191-AC-A",
        "variant": "2:15942191 AC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 15942198,
          "referenceAllele": "C",
          "start": 15942197
        }
      ],
      "hgvs": [
        "NC_000002.12:g.15942198del",
        "CM000664.2:g.15942198del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 16082320,
          "referenceAllele": "C",
          "start": 16082319
        }
      ],
      "hgvs": [
        "NC_000002.11:g.16082320del",
        "CM000664.1:g.16082320del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 15999771,
          "referenceAllele": "C",
          "start": 15999770
        }
      ],
      "hgvs": [
        "NC_000002.10:g.15999771del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6638,
          "referenceAllele": "C",
          "start": 6637
        }
      ],
      "hgvs": [
        "NG_007457.1:g.6638del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000583"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "ENST00000281043.4:c.134del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281043.3:p.Pro45ArgfsTer?",
        "hgvsWellDefined": "ENSP00000281043.3:p.[Pro45Arg;Glu47_Leu56delinsArgThrSerGlyArgSerLeuSerCysCys;Thr58Arg;Pro60_Ser62delinsArgCysArg;Pro63_Ser64insAlaValAla;Gly66_Phe67delinsSerThr;Glu69_His70delinsPro;Ser72_Glu73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743589",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281043.4:c.134del"
          },
          "RefSeq": {
            "hgvs": "NM_005378.6:c.134del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281043.3:p.Pro45ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005369.2:p.Pro45ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 1455,
          "referenceAllele": "C",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "ENST00000638417.1:c.157+1455del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491476.1:n.157+1455del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "ENST00000281043.3:c.134del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281043.3:p.Pro45ArgfsTer?",
        "hgvsWellDefined": "ENSP00000281043.3:p.[Pro45Arg;Glu47_Leu56delinsArgThrSerGlyArgSerLeuSerCysCys;Thr58Arg;Pro60_Ser62delinsArgCysArg;Pro63_Ser64insAlaValAla;Gly66_Phe67delinsSerThr;Glu69_His70delinsPro;Ser72_Glu73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_001293228.1:c.134del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280157.1:p.Pro45ArgfsTer?",
        "hgvsWellDefined": "NP_001280157.1:p.[Pro45Arg;Glu47_Leu56delinsArgThrSerGlyArgSerLeuSerCysCys;Thr58Arg;Pro60_Ser62delinsArgCysArg;Pro63_Ser64insAlaValAla;Gly66_Phe67delinsSerThr;Glu69_His70delinsPro;Ser72_Glu73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 1455,
          "referenceAllele": "C",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_001293231.1:c.157+1455del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280160.1:n.157+1455del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_001293233.1:c.*69del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280162.1:n.*69del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024515"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_005378.5:c.134del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005369.2:p.Pro45ArgfsTer?",
        "hgvsWellDefined": "NP_005369.2:p.[Pro45Arg;Glu47_Leu56delinsArgThrSerGlyArgSerLeuSerCysCys;Thr58Arg;Pro60_Ser62delinsArgCysArg;Pro63_Ser64insAlaValAla;Gly66_Phe67delinsSerThr;Glu69_His70delinsPro;Ser72_Glu73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 58,
          "referenceAllele": "G",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016911",
      "geneNCBI_id": 10408,
      "geneSymbol": "MYCNOS",
      "hgvs": [
        "NM_001329968.1:c.-274del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316897.1:n.-274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "G",
          "start": 78,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016911",
      "geneNCBI_id": 10408,
      "geneSymbol": "MYCNOS",
      "hgvs": [
        "XM_024452528.1:c.-234+190del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308296.1:n.-234+190del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_005378.6:c.134del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005369.2:p.Pro45ArgfsTer?",
        "hgvsWellDefined": "NP_005369.2:p.[Pro45Arg;Glu47_Leu56delinsArgThrSerGlyArgSerLeuSerCysCys;Thr58Arg;Pro60_Ser62delinsArgCysArg;Pro63_Ser64insAlaValAla;Gly66_Phe67delinsSerThr;Glu69_His70delinsPro;Ser72_Glu73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666935",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281043.4:c.134del"
          },
          "RefSeq": {
            "hgvs": "NM_005378.6:c.134del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281043.3:p.Pro45ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005369.2:p.Pro45ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_001293228.2:c.134del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280157.1:p.Pro45ArgfsTer?",
        "hgvsWellDefined": "NP_001280157.1:p.[Pro45Arg;Glu47_Leu56delinsArgThrSerGlyArgSerLeuSerCysCys;Thr58Arg;Pro60_Ser62delinsArgCysArg;Pro63_Ser64insAlaValAla;Gly66_Phe67delinsSerThr;Glu69_His70delinsPro;Ser72_Glu73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 1455,
          "referenceAllele": "C",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_001293231.2:c.157+1455del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280160.1:n.157+1455del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007559",
      "geneNCBI_id": 4613,
      "geneSymbol": "MYCN",
      "hgvs": [
        "NM_001293233.2:c.*69del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280162.1:n.*69del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016911",
      "geneNCBI_id": 10408,
      "geneSymbol": "MYCNOS",
      "hgvs": [
        "NR_161163.1:n.242del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705278"
    }
  ],
  "type": "nucleotide"
}