{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2436265",
  "communityStandardTitle": [
    "NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909ArgfsTer?)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2853392",
        "active": true,
        "id": "COSM2853392"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2853393",
        "active": true,
        "id": "COSM2853393"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424405[alleleid]",
        "alleleId": 424405,
        "preferredName": "NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430860",
        "RCV": [
          "RCV000495960"
        ],
        "variationId": 430860
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-52430998-CCT-C",
        "id": "3-52430998-CCT-C",
        "variant": "3:52430998 CCT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.52430999_52431000del?assembly=hg19",
        "id": "chr3:g.52430999_52431000del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.52396983_52396984del?assembly=hg38",
        "id": "chr3:g.52396983_52396984del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779490893",
        "rs": 779490893
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-52430998-CCT-C?dataset=gnomad_r2_1",
        "id": "3-52430998-CCT-C",
        "variant": "3:52430998 CCT / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-52396982-CCT-C?dataset=gnomad_r3",
        "id": "3-52396982-CCT-C",
        "variant": "3:52396982 CCT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-52396982-CCT-C?dataset=gnomad_r4",
        "id": "3-52396982-CCT-C",
        "variant": "3:52396982 CCT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 52396984,
          "referenceAllele": "CT",
          "start": 52396982
        }
      ],
      "hgvs": [
        "NC_000003.12:g.52396983_52396984del",
        "CM000665.2:g.52396983_52396984del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 52431000,
          "referenceAllele": "CT",
          "start": 52430998
        }
      ],
      "hgvs": [
        "NC_000003.11:g.52430999_52431000del",
        "CM000665.1:g.52430999_52431000del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 52406040,
          "referenceAllele": "CT",
          "start": 52406038
        }
      ],
      "hgvs": [
        "NC_000003.10:g.52406039_52406040del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 85666,
          "referenceAllele": "CT",
          "start": 85664
        }
      ],
      "hgvs": [
        "NG_052911.1:g.85665_85666del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617253"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 11988,
          "referenceAllele": "CT",
          "start": 11986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "ENST00000420323.7:c.11726_11727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401514.2:p.Pro3909ArgfsTer?",
        "hgvsWellDefined": "ENSP00000401514.2:p.[Pro3909_Ser3916delinsArgAlaGlnLeuGlnArgLeu;Ile3918_Tyr3919del;Gln3921_Ile3922delinsLeuPro;Pro3923_Pro3924insAsp;Thr3925Ala;Asp3927_Tyr3931delinsLeuArgProProArg;Ser3933_Leu3938delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420323.7:c.11726_11727del"
          },
          "RefSeq": {
            "hgvs": "NM_015512.5:c.11726_11727del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401514.2:p.Pro3909ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_056327.4:p.Pro3909ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 11988,
          "referenceAllele": "CT",
          "start": 11986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "ENST00000420323.6:c.11726_11727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401514.2:p.Pro3909ArgfsTer?",
        "hgvsWellDefined": "ENSP00000401514.2:p.[Pro3909_Ser3916delinsArgAlaGlnLeuGlnArgLeu;Ile3918_Tyr3919del;Gln3921_Ile3922delinsLeuPro;Pro3923_Pro3924insAsp;Thr3925Ala;Asp3927_Tyr3931delinsLeuArgProProArg;Ser3933_Leu3938delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286267"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12184,
          "referenceAllele": "CT",
          "start": 12182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "ENST00000486752.5:n.12183_12184del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325485"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3513,
          "referenceAllele": "CT",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "ENST00000488988.5:n.3512_3513del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327145"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2427,
          "referenceAllele": "CT",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "ENST00000490713.5:c.2426_2427del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419071.1:p.Pro809ArgfsTer?",
        "hgvsWellDefined": "ENSP00000419071.1:p.[Pro809_Ser816delinsArgAlaGlnLeuGlnArgLeu;Ile818_Tyr819del;Gln821_Ile822delinsLeuPro;Pro823_Pro824insAsp;Thr825Ala;Asp827_Tyr831delinsLeuArgProProArg;Ser833_Leu838delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 11988,
          "referenceAllele": "CT",
          "start": 11986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "NM_015512.4:c.11726_11727del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056327.4:p.Pro3909ArgfsTer?",
        "hgvsWellDefined": "NP_056327.4:p.[Pro3909_Ser3916delinsArgAlaGlnLeuGlnArgLeu;Ile3918_Tyr3919del;Gln3921_Ile3922delinsLeuPro;Pro3923_Pro3924insAsp;Thr3925Ala;Asp3927_Tyr3931delinsLeuArgProProArg;Ser3933_Leu3938delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034074"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 11961,
          "referenceAllele": "CT",
          "start": 11959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "XM_011533577.1:c.11795_11796del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531879.1:p.Pro3932ArgfsTer?",
        "hgvsWellDefined": "XP_011531879.1:p.[Pro3932_Ser3939delinsArgAlaGlnLeuGlnArgLeu;Ile3941_Tyr3942del;Gln3944_Ile3945delinsLeuPro;Pro3946_Pro3947insAsp;Thr3948Ala;Asp3950_Tyr3954delinsLeuArgProProArg;Ser3956_Leu3961delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100598"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14945,
          "referenceAllele": "CT",
          "start": 14943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "XM_017006129.1:c.11795_11796del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861618.1:p.Pro3932ArgfsTer?",
        "hgvsWellDefined": "XP_016861618.1:p.[Pro3932_Ser3939delinsArgAlaGlnLeuGlnArgLeu;Ile3941_Tyr3942del;Gln3944_Ile3945delinsLeuPro;Pro3946_Pro3947insAsp;Thr3948Ala;Asp3950_Tyr3954delinsLeuArgProProArg;Ser3956_Leu3961delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14875,
          "referenceAllele": "CT",
          "start": 14873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "XM_017006130.1:c.11726_11727del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861619.1:p.Pro3909ArgfsTer?",
        "hgvsWellDefined": "XP_016861619.1:p.[Pro3909_Ser3916delinsArgAlaGlnLeuGlnArgLeu;Ile3918_Tyr3919del;Gln3921_Ile3922delinsLeuPro;Pro3923_Pro3924insAsp;Thr3925Ala;Asp3927_Tyr3931delinsLeuArgProProArg;Ser3933_Leu3938delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14819,
          "referenceAllele": "CT",
          "start": 14817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "XM_017006131.1:c.11669_11670del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861620.1:p.Pro3890ArgfsTer?",
        "hgvsWellDefined": "XP_016861620.1:p.[Pro3890_Ser3897delinsArgAlaGlnLeuGlnArgLeu;Ile3899_Tyr3900del;Gln3902_Ile3903delinsLeuPro;Pro3904_Pro3905insAsp;Thr3906Ala;Asp3908_Tyr3912delinsLeuArgProProArg;Ser3914_Leu3919delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561227"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14945,
          "referenceAllele": "CT",
          "start": 14943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "XR_001740098.1:n.14944_14945del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14945,
          "referenceAllele": "CT",
          "start": 14943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "XR_001740099.1:n.14944_14945del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 11988,
          "referenceAllele": "CT",
          "start": 11986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002940",
      "geneNCBI_id": 25981,
      "geneSymbol": "DNAH1",
      "hgvs": [
        "NM_015512.5:c.11726_11727del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056327.4:p.Pro3909ArgfsTer?",
        "hgvsWellDefined": "NP_056327.4:p.[Pro3909_Ser3916delinsArgAlaGlnLeuGlnArgLeu;Ile3918_Tyr3919del;Gln3921_Ile3922delinsLeuPro;Pro3923_Pro3924insAsp;Thr3925Ala;Asp3927_Tyr3931delinsLeuArgProProArg;Ser3933_Leu3938delinsProLeuLeuHisGlnGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420323.7:c.11726_11727del"
          },
          "RefSeq": {
            "hgvs": "NM_015512.5:c.11726_11727del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401514.2:p.Pro3909ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_056327.4:p.Pro3909ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}