{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340421",
  "communityStandardTitle": [
    "NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20510[alleleid]",
        "alleleId": 20510,
        "preferredName": "NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5471",
        "RCV": [
          "RCV000005805"
        ],
        "variationId": 5471
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.12337493_12337494delinsTA?assembly=hg19",
        "id": "chr18:g.12337493_12337494delinsTA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.12337494_12337495delinsTA?assembly=hg38",
        "id": "chr18:g.12337494_12337495delinsTA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151344519",
        "rs": 151344519
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "TA",
          "end": 12337495,
          "referenceAllele": "GG",
          "start": 12337493
        }
      ],
      "hgvs": [
        "NC_000018.10:g.12337494_12337495delinsTA",
        "CM000680.2:g.12337494_12337495delinsTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "TA",
          "end": 12337494,
          "referenceAllele": "GG",
          "start": 12337492
        }
      ],
      "hgvs": [
        "NC_000018.9:g.12337493_12337494delinsTA",
        "CM000680.1:g.12337493_12337494delinsTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "TA",
          "end": 12327494,
          "referenceAllele": "GG",
          "start": 12327492
        }
      ],
      "hgvs": [
        "NC_000018.8:g.12327493_12327494delinsTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 44783,
          "referenceAllele": "CC",
          "start": 44781
        }
      ],
      "hgvs": [
        "NG_023361.1:g.44782_44783delinsTA",
        "LRG_666:g.44782_44783delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1941,
          "referenceAllele": "CC",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687337.1:c.*1617_*1618delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508998.1:n.*1617_*1618delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831038"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 558,
          "referenceAllele": "CC",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687477.1:n.557_558delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831106"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1911,
          "referenceAllele": "CC",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000688199.1:c.1883_1884delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510237.1:p.Ser628Leu",
        "hgvsWellDefined": "ENSP00000510237.1:p.Ser628Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831495"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1974,
          "referenceAllele": "CC",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691179.1:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509010.1:p.Ser649Leu",
        "hgvsWellDefined": "ENSP00000509010.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833087"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1793,
          "referenceAllele": "CC",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691970.1:c.*1398_*1399delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508440.1:n.*1398_*1399delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833471"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2180,
          "referenceAllele": "CC",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692497.1:c.*451_*452delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509870.1:n.*451_*452delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833746"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1840,
          "referenceAllele": "CC",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692988.1:n.1839_1840delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834004"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2167,
          "referenceAllele": "CC",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.8:c.2021_2022delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Ser674Leu",
        "hgvsWellDefined": "ENSP00000269143.2:p.Ser674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743090",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.2021_2022delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.2021_2022delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Ser674Leu"
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Ser674Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2254,
          "referenceAllele": "CC",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.7:c.2021_2022delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Ser674Leu",
        "hgvsWellDefined": "ENSP00000269143.2:p.Ser674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252137"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 6553,
          "referenceAllele": "GG",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 6555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020776",
      "geneNCBI_id": 84617,
      "geneSymbol": "TUBB6",
      "hgvs": [
        "ENST00000586691.1:c.88-6555_88-6554delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340423",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2216,
          "referenceAllele": "CC",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.2:c.2021_2022delinsTA",
        "LRG_666t1:c.2021_2022delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Ser674Leu",
        "hgvsWellDefined": "NP_006787.2:p.Ser674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031778"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2048,
          "referenceAllele": "CC",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.1:c.1820_1821delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:p.Ser607Leu",
        "hgvsWellDefined": "XP_011523903.1:p.Ser607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092719"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2048,
          "referenceAllele": "CC",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.3:c.1820_1821delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:p.Ser607Leu",
        "hgvsWellDefined": "XP_011523903.1:p.Ser607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547946"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 593,
          "referenceAllele": "GG",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 591
        }
      ],
      "hgvs": [
        "XR_002958227.1:n.451+592_451+593delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340423",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2167,
          "referenceAllele": "CC",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.3:c.2021_2022delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Ser674Leu",
        "hgvsWellDefined": "NP_006787.2:p.Ser674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696819",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.2021_2022delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.2021_2022delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Ser674Leu"
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Ser674Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}