{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2697557358",
  "communityStandardTitle": [
    "NM_000443.4(ABCB4):c.1635del (p.Ala546ProfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2848852[alleleid]",
        "alleleId": 2848852,
        "preferredName": "NM_000443.4(ABCB4):c.1635del (p.Ala546fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2687815",
        "RCV": [
          "RCV003485973"
        ],
        "variationId": 2687815
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2546828016",
        "rs": 2546828016
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 87439763,
          "referenceAllele": "A",
          "start": 87439762
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87439763del",
        "CM000669.2:g.87439763del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 87069079,
          "referenceAllele": "A",
          "start": 87069078
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87069079del",
        "CM000669.1:g.87069079del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 86907015,
          "referenceAllele": "A",
          "start": 86907014
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86907015del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 45670,
          "referenceAllele": "T",
          "start": 45669
        }
      ],
      "hgvs": [
        "NG_007118.1:g.45670del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 45670,
          "referenceAllele": "T",
          "start": 45669
        }
      ],
      "hgvs": [
        "NG_007118.2:g.45670del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1719,
          "referenceAllele": "T",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.8:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Ala546ProfsTer?",
        "hgvsWellDefined": "ENSP00000352135.3:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000643670.1:c.1651del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496629.1:n.1651del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1755,
          "referenceAllele": "T",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000644106.1:c.*1172del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493477.1:n.*1172del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767635"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000649586.2:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496956.2:p.Ala546ProfsTer?",
        "hgvsWellDefined": "ENSP00000496956.2:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.1635del"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1635del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Ala546ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Ala546ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1747,
          "referenceAllele": "T",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000265723.8:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265723.4:p.Ala546ProfsTer?",
        "hgvsWellDefined": "ENSP00000265723.4:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251806"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000358400.7:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351172.3:p.Ala546ProfsTer?",
        "hgvsWellDefined": "ENSP00000351172.3:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264440"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1667,
          "referenceAllele": "T",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.7:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Ala546ProfsTer?",
        "hgvsWellDefined": "ENSP00000352135.3:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264714"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1635,
          "referenceAllele": "T",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000453593.5:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392983.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "ENSP00000392983.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302181"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.3:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "NP_000434.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006505"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.2:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "NP_061337.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.2:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "NP_061338.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035905"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1726,
          "referenceAllele": "T",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.1:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_011514610.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083511"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1725,
          "referenceAllele": "T",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.1:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_011514611.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083512"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1726,
          "referenceAllele": "T",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.1:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_011514612.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1726,
          "referenceAllele": "T",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.1:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_011514613.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1726,
          "referenceAllele": "T",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.1:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_011514614.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083515"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1725,
          "referenceAllele": "T",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.1:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_011514615.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083516"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3032,
          "referenceAllele": "T",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516314.1:c.1656del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514616.1:p.Ala553ProfsTer?",
        "hgvsWellDefined": "XP_011514616.1:p.[Ala553_Asn557delinsProTrpPheAlaThr;Lys559_Asp571delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu573_Ala581delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083517"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.1:c.975del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.1:p.Ala326ProfsTer?",
        "hgvsWellDefined": "XP_011514617.1:p.[Ala326_Asn330delinsProTrpPheAlaThr;Lys332_Asp344delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu346_Ala354delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1731,
          "referenceAllele": "T",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_927478.1:n.1731del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123883"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2590,
          "referenceAllele": "T",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.3:c.1905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.3:p.Ala636ProfsTer?",
        "hgvsWellDefined": "XP_011514610.3:p.[Ala636_Asn640delinsProTrpPheAlaThr;Lys642_Asp654delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu656_Ala664delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544111"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2586,
          "referenceAllele": "T",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.3:c.1905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.3:p.Ala636ProfsTer?",
        "hgvsWellDefined": "XP_011514611.3:p.[Ala636_Asn640delinsProTrpPheAlaThr;Lys642_Asp654delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu656_Ala664delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544112"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.3:c.1905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.3:p.Ala636ProfsTer?",
        "hgvsWellDefined": "XP_011514612.3:p.[Ala636_Asn640delinsProTrpPheAlaThr;Lys642_Asp654delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu656_Ala664delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544113"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2591,
          "referenceAllele": "T",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.3:c.1905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.3:p.Ala636ProfsTer?",
        "hgvsWellDefined": "XP_011514613.3:p.[Ala636_Asn640delinsProTrpPheAlaThr;Lys642_Asp654delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu656_Ala664delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2589,
          "referenceAllele": "T",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.3:c.1905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.3:p.Ala636ProfsTer?",
        "hgvsWellDefined": "XP_011514614.3:p.[Ala636_Asn640delinsProTrpPheAlaThr;Lys642_Asp654delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu656_Ala664delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2584,
          "referenceAllele": "T",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.3:c.1905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.2:p.Ala636ProfsTer?",
        "hgvsWellDefined": "XP_011514615.2:p.[Ala636_Asn640delinsProTrpPheAlaThr;Lys642_Asp654delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu656_Ala664delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.3:c.975del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.2:p.Ala326ProfsTer?",
        "hgvsWellDefined": "XP_011514617.2:p.[Ala326_Asn330delinsProTrpPheAlaThr;Lys332_Asp344delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu346_Ala354delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544117"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1722,
          "referenceAllele": "T",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_017012323.2:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867812.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "XP_016867812.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2406,
          "referenceAllele": "T",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744809.2:n.2406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2401,
          "referenceAllele": "T",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744810.2:n.2401del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.4:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "NP_000434.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.1635del"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1635del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Ala546ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Ala546ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.3:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "NP_061337.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.3:c.1635del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Ala546ProfsTer?",
        "hgvsWellDefined": "NP_061338.1:p.[Ala546_Asn550delinsProTrpPheAlaThr;Lys552_Asp564delinsArgSerPheCysTrpMetArgProArgGlnHisTrp;Glu566_Ala574delinsGlnLysValLysLeuArgTyrArgGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}