{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275817",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.126del (p.Leu43CysfsTer3)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=308997",
        "active": true,
        "id": "COSM308997"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200435[alleleid]",
        "alleleId": 200435,
        "preferredName": "NM_000030.3(AGXT):c.126del (p.Leu43fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204176",
        "RCV": [
          "RCV000186383",
          "RCV001215991",
          "RCV001174889"
        ],
        "variationId": 204176
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-241808402-CG-C",
        "id": "2-241808402-CG-C",
        "variant": "2:241808402 CG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241808408del?assembly=hg19",
        "id": "chr2:g.241808408del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241808403del?assembly=hg19",
        "id": "chr2:g.241808403del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240868991del?assembly=hg38",
        "id": "chr2:g.240868991del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240868986del?assembly=hg38",
        "id": "chr2:g.240868986del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177171",
        "rs": 180177171
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-241808402-CG-C?dataset=gnomad_r2_1",
        "id": "2-241808402-CG-C",
        "variant": "2:241808402 CG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240868985-CG-C?dataset=gnomad_r4",
        "id": "2-240868985-CG-C",
        "variant": "2:240868985 CG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 240868991,
          "referenceAllele": "G",
          "start": 240868990
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240868991del",
        "CM000664.2:g.240868991del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 241808408,
          "referenceAllele": "G",
          "start": 241808407
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241808408del",
        "CM000664.1:g.241808408del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 241457081,
          "referenceAllele": "G",
          "start": 241457080
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241457081del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5247,
          "referenceAllele": "G",
          "start": 5246
        }
      ],
      "hgvs": [
        "NG_008005.1:g.5247del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Leu43CysfsTer3",
        "hgvsWellDefined": "ENSP00000302620.3:p.[Leu43_Thr70delinsCys;Asn72del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.126del"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.126del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Leu43CysfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Leu43CysfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Leu43CysfsTer3",
        "hgvsWellDefined": "ENSP00000302620.3:p.[Leu43_Thr70delinsCys;Asn72del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000472436.1:n.146del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314405"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 247,
          "referenceAllele": "G",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Leu43CysfsTer3",
        "hgvsWellDefined": "NP_000021.1:p.[Leu43_Thr70delinsCys;Asn72del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 1247,
          "referenceAllele": "C",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 1246
        }
      ],
      "hgvs": [
        "XR_924060.1:n.405+1247del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121120"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Leu43CysfsTer3",
        "hgvsWellDefined": "NP_000021.1:p.[Leu43_Thr70delinsCys;Asn72del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.126del"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.126del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Leu43CysfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Leu43CysfsTer3"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}