{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2577615822",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.732_733del (p.Cys244Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2070031[alleleid]",
        "alleleId": 2070031,
        "preferredName": "NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2008219",
        "RCV": [
          "RCV002833705",
          "RCV003464608"
        ],
        "variationId": 2008219
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2517442346",
        "rs": 2517442346
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-43065205-TCA-T?dataset=gnomad_r4",
        "id": "21-43065205-TCA-T",
        "variant": "21:43065205 TCA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 43065210,
          "referenceAllele": "AC",
          "start": 43065208
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43065209_43065210del",
        "CM000683.2:g.43065209_43065210del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 15725,
          "referenceAllele": "GT",
          "start": 15723
        }
      ],
      "hgvs": [
        "NG_008938.1:g.15724_15725del",
        "LRG_777:g.15724_15725del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Cys244Ter",
        "hgvsWellDefined": "ENSP00000381231.4:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.732_733del"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.732_733del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Cys244Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Cys244Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "GT",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Cys244Ter",
        "hgvsWellDefined": "ENSP00000344460.5:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 955,
          "referenceAllele": "GT",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Cys244Ter",
        "hgvsWellDefined": "ENSP00000352643.3:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "GT",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Cys244Ter",
        "hgvsWellDefined": "ENSP00000381225.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 993,
          "referenceAllele": "GT",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Cys244Ter",
        "hgvsWellDefined": "ENSP00000381231.3:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1044,
          "referenceAllele": "GT",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.1043_1044del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579797225",
      "coordinates": [
        {
          "allele": "",
          "end": 978,
          "referenceAllele": "GT",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.732_733del",
        "LRG_777t1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_000062.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132847",
      "coordinates": [
        {
          "allele": "",
          "end": 955,
          "referenceAllele": "GT",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133524",
      "coordinates": [
        {
          "allele": "",
          "end": 955,
          "referenceAllele": "GT",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1100,
          "referenceAllele": "GT",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_011528075.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1100,
          "referenceAllele": "GT",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_011528076.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1098,
          "referenceAllele": "GT",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_011528077.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1098,
          "referenceAllele": "GT",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_011528078.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 921,
          "referenceAllele": "GT",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_011528079.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 980,
          "referenceAllele": "GT",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_011528080.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 974,
          "referenceAllele": "GT",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_011528081.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 986,
          "referenceAllele": "GT",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_011528083.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1384,
          "referenceAllele": "GT",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_011528084.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1011,
          "referenceAllele": "GT",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Cys139Ter",
        "hgvsWellDefined": "XP_011528085.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1011,
          "referenceAllele": "GT",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Cys139Ter",
        "hgvsWellDefined": "XP_011528086.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132847",
      "coordinates": [
        {
          "allele": "",
          "end": 985,
          "referenceAllele": "GT",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133524",
      "coordinates": [
        {
          "allele": "",
          "end": 985,
          "referenceAllele": "GT",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043145",
      "coordinates": [
        {
          "allele": "",
          "end": 979,
          "referenceAllele": "GT",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001307227.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827070244",
      "coordinates": [
        {
          "allele": "",
          "end": 1044,
          "referenceAllele": "GT",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Cys139Ter",
        "hgvsWellDefined": "NP_001308001.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1104,
          "referenceAllele": "GT",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_011528076.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_011528079.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1016,
          "referenceAllele": "GT",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Cys139Ter",
        "hgvsWellDefined": "XP_011528085.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Cys244Ter",
        "hgvsWellDefined": "XP_016883980.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1667,
          "referenceAllele": "GT",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_024307904.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1667,
          "referenceAllele": "GT",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.783_784del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Cys261Ter",
        "hgvsWellDefined": "XP_024307905.1:p.Asp262_Cys292del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "referenceAllele": "GT",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Cys139Ter",
        "hgvsWellDefined": "XP_024307906.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1705,
          "referenceAllele": "GT",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Cys139Ter",
        "hgvsWellDefined": "XP_024307907.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1608,
          "referenceAllele": "GT",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.417_418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Cys139Ter",
        "hgvsWellDefined": "XP_024307908.1:p.Asp140_Cys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1104,
          "referenceAllele": "GT",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1103_1104del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.882_883del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.882_883del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.882_883del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579797225",
      "coordinates": [
        {
          "allele": "",
          "end": 883,
          "referenceAllele": "GT",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_000062.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.732_733del"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.732_733del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Cys244Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Cys244Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133524",
      "coordinates": [
        {
          "allele": "",
          "end": 970,
          "referenceAllele": "GT",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132847",
      "coordinates": [
        {
          "allele": "",
          "end": 970,
          "referenceAllele": "GT",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043145",
      "coordinates": [
        {
          "allele": "",
          "end": 991,
          "referenceAllele": "GT",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.732_733del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Cys244Ter",
        "hgvsWellDefined": "NP_001307227.1:p.Asp245_Cys275del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}