{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3846984",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.1022dup (p.Asn341LysfsTer20)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544144[alleleid]",
        "alleleId": 544144,
        "preferredName": "NM_000255.4(MMUT):c.1022dup (p.Asn341fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553958",
        "RCV": [
          "RCV000669504",
          "RCV000780494",
          "RCV001271711",
          "RCV001376592"
        ],
        "variationId": 553958
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-49421358-G-GT",
        "id": "6-49421358-G-GT",
        "variant": "6:49421358 G / GT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49421358_49421359insT?assembly=hg19",
        "id": "chr6:g.49421358_49421359insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49453646dup?assembly=hg38",
        "id": "chr6:g.49453646dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49453645_49453646insT?assembly=hg38",
        "id": "chr6:g.49453645_49453646insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752898811",
        "rs": 752898811
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49421358-G-GT?dataset=gnomad_r2_1",
        "id": "6-49421358-G-GT",
        "variant": "6:49421358 G / GT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49453645-G-GT?dataset=gnomad_r4",
        "id": "6-49453645-G-GT",
        "variant": "6:49453645 G / GT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 49453650,
          "referenceAllele": "",
          "start": 49453650
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49453650dup",
        "CM000668.2:g.49453650dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 49421363,
          "referenceAllele": "",
          "start": 49421363
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49421363dup",
        "CM000668.1:g.49421363dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 49529322,
          "referenceAllele": "",
          "start": 49529322
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49529322dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14494,
          "referenceAllele": "",
          "start": 14494
        }
      ],
      "hgvs": [
        "NG_007100.1:g.14494dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Asn341LysfsTer20",
        "hgvsWellDefined": "ENSP00000274813.3:p.[Asn341_Ser342del;Ser344del;Leu346_Thr353delinsLysIleSerSer;Gly355_Trp356delinsLys;Leu358del;Glu360_Gln361delinsLeuSer;Pro363_Ile367delinsIleTrpMet;Arg369_Thr370delinsThrTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.1022dup"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.1022dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Asn341LysfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Asn341LysfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Asn341LysfsTer20",
        "hgvsWellDefined": "ENSP00000274813.3:p.[Asn341_Ser342del;Ser344del;Leu346_Thr353delinsLysIleSerSer;Gly355_Trp356delinsLys;Leu358del;Glu360_Gln361delinsLeuSer;Pro363_Ile367delinsIleTrpMet;Arg369_Thr370delinsThrTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.1022dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Asn341LysfsTer20",
        "hgvsWellDefined": "NP_000246.2:p.[Asn341_Ser342del;Ser344del;Leu346_Thr353delinsLysIleSerSer;Gly355_Trp356delinsLys;Leu358del;Glu360_Gln361delinsLeuSer;Pro363_Ile367delinsIleTrpMet;Arg369_Thr370delinsThrTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.1022dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Asn341LysfsTer20",
        "hgvsWellDefined": "XP_005249200.1:p.[Asn341_Ser342del;Ser344del;Leu346_Thr353delinsLysIleSerSer;Gly355_Trp356delinsLys;Leu358del;Glu360_Gln361delinsLeuSer;Pro363_Ile367delinsIleTrpMet;Arg369_Thr370delinsThrTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.1022dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Asn341LysfsTer20",
        "hgvsWellDefined": "XP_005249200.1:p.[Asn341_Ser342del;Ser344del;Leu346_Thr353delinsLysIleSerSer;Gly355_Trp356delinsLys;Leu358del;Glu360_Gln361delinsLeuSer;Pro363_Ile367delinsIleTrpMet;Arg369_Thr370delinsThrTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.1022dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Asn341LysfsTer20",
        "hgvsWellDefined": "NP_000246.2:p.[Asn341_Ser342del;Ser344del;Leu346_Thr353delinsLysIleSerSer;Gly355_Trp356delinsLys;Leu358del;Glu360_Gln361delinsLeuSer;Pro363_Ile367delinsIleTrpMet;Arg369_Thr370delinsThrTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.1022dup"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.1022dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Asn341LysfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Asn341LysfsTer20"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}