{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3847072",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.671_678dup (p.Val227AsnfsTer16)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544021[alleleid]",
        "alleleId": 544021,
        "preferredName": "NM_000255.4(MMUT):c.671_678dup (p.Val227fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/554641",
        "RCV": [
          "RCV000670315",
          "RCV001271715",
          "RCV001376616",
          "RCV001293582"
        ],
        "variationId": 554641
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-49425478-C-CCATAAATT",
        "id": "6-49425478-C-CCATAAATT",
        "variant": "6:49425478 C / CCATAAATT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49425478_49425479insCATAAATT?assembly=hg19",
        "id": "chr6:g.49425478_49425479insCATAAATT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49457766_49457773dup?assembly=hg38",
        "id": "chr6:g.49457766_49457773dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49457765_49457766insCATAAATT?assembly=hg38",
        "id": "chr6:g.49457765_49457766insCATAAATT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758008398",
        "rs": 758008398
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49425478-C-CCATAAATT?dataset=gnomad_r2_1",
        "id": "6-49425478-C-CCATAAATT",
        "variant": "6:49425478 C / CCATAAATT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49457765-C-CCATAAATT?dataset=gnomad_r4",
        "id": "6-49457765-C-CCATAAATT",
        "variant": "6:49457765 C / CCATAAATT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "ATAAATTC",
          "end": 49457774,
          "referenceAllele": "",
          "start": 49457774
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49457767_49457774dup",
        "CM000668.2:g.49457767_49457774dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "ATAAATTC",
          "end": 49425487,
          "referenceAllele": "",
          "start": 49425487
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49425480_49425487dup",
        "CM000668.1:g.49425480_49425487dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "ATAAATTC",
          "end": 49533446,
          "referenceAllele": "",
          "start": 49533446
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49533439_49533446dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 10374,
          "referenceAllele": "",
          "start": 10374
        }
      ],
      "hgvs": [
        "NG_007100.1:g.10367_10374dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 868,
          "referenceAllele": "",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.671_678dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Val227AsnfsTer16",
        "hgvsWellDefined": "ENSP00000274813.3:p.[Val227_Arg228del;Thr230_Ile232delinsLeuTrp;Pro234_Pro235del;Pro237_Lys240del;Ile242_Ile245delinsHisThrPhe;Glu247_Lys251delinsLeuGlnAsn;Met253del;Lys255_Phe256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.671_678dup"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.671_678dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Val227AsnfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Val227AsnfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 806,
          "referenceAllele": "",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.671_678dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Val227AsnfsTer16",
        "hgvsWellDefined": "ENSP00000274813.3:p.[Val227_Arg228del;Thr230_Ile232delinsLeuTrp;Pro234_Pro235del;Pro237_Lys240del;Ile242_Ile245delinsHisThrPhe;Glu247_Lys251delinsLeuGlnAsn;Met253del;Lys255_Phe256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 943,
          "referenceAllele": "",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.671_678dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Val227AsnfsTer16",
        "hgvsWellDefined": "NP_000246.2:p.[Val227_Arg228del;Thr230_Ile232delinsLeuTrp;Pro234_Pro235del;Pro237_Lys240del;Ile242_Ile245delinsHisThrPhe;Glu247_Lys251delinsLeuGlnAsn;Met253del;Lys255_Phe256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 848,
          "referenceAllele": "",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.671_678dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Val227AsnfsTer16",
        "hgvsWellDefined": "XP_005249200.1:p.[Val227_Arg228del;Thr230_Ile232delinsLeuTrp;Pro234_Pro235del;Pro237_Lys240del;Ile242_Ile245delinsHisThrPhe;Glu247_Lys251delinsLeuGlnAsn;Met253del;Lys255_Phe256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 848,
          "referenceAllele": "",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.671_678dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Val227AsnfsTer16",
        "hgvsWellDefined": "XP_005249200.1:p.[Val227_Arg228del;Thr230_Ile232delinsLeuTrp;Pro234_Pro235del;Pro237_Lys240del;Ile242_Ile245delinsHisThrPhe;Glu247_Lys251delinsLeuGlnAsn;Met253del;Lys255_Phe256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "coordinates": [
        {
          "allele": "ATTTATGA",
          "end": 868,
          "referenceAllele": "",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.671_678dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Val227AsnfsTer16",
        "hgvsWellDefined": "NP_000246.2:p.[Val227_Arg228del;Thr230_Ile232delinsLeuTrp;Pro234_Pro235del;Pro237_Lys240del;Ile242_Ile245delinsHisThrPhe;Glu247_Lys251delinsLeuGlnAsn;Met253del;Lys255_Phe256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.671_678dup"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.671_678dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Val227AsnfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Val227AsnfsTer16"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}