{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA023734",
  "communityStandardTitle": [
    "NM_000527.5(LDLR):c.654_656del (p.Gly219del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228142[alleleid]",
        "alleleId": 228142,
        "preferredName": "NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226329",
        "RCV": [
          "RCV000211647",
          "RCV000489033",
          "RCV000589051",
          "RCV002363056",
          "RCV004017502"
        ],
        "variationId": 226329
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-11216232-ATGG-A",
        "id": "19-11216232-ATGG-A",
        "variant": "19:11216232 ATGG / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11216236_11216238del?assembly=hg19",
        "id": "chr19:g.11216236_11216238del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11216233_11216235del?assembly=hg19",
        "id": "chr19:g.11216233_11216235del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11105560_11105562del?assembly=hg38",
        "id": "chr19:g.11105560_11105562del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11105557_11105559del?assembly=hg38",
        "id": "chr19:g.11105557_11105559del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908027",
        "rs": 121908027
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11216232-ATGG-A?dataset=gnomad_r2_1",
        "id": "19-11216232-ATGG-A",
        "variant": "19:11216232 ATGG / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11105556-ATGG-A?dataset=gnomad_r3",
        "id": "19-11105556-ATGG-A",
        "variant": "19:11105556 ATGG / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11105556-ATGG-A?dataset=gnomad_r4",
        "id": "19-11105556-ATGG-A",
        "variant": "19:11105556 ATGG / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 11105562,
          "referenceAllele": "TGG",
          "start": 11105559
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11105560_11105562del",
        "CM000681.2:g.11105560_11105562del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 11216238,
          "referenceAllele": "TGG",
          "start": 11216235
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11216236_11216238del",
        "CM000681.1:g.11216236_11216238del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 11077238,
          "referenceAllele": "TGG",
          "start": 11077235
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11077236_11077238del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 21182,
          "referenceAllele": "TGG",
          "start": 21179
        }
      ],
      "hgvs": [
        "NG_009060.1:g.21180_21182del",
        "LRG_274:g.21180_21182del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 930,
          "referenceAllele": "TGG",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.10:c.912_914del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252444.6:p.Gly305del",
        "hgvsWellDefined": "ENSP00000252444.6:p.Gly305del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 787,
          "referenceAllele": "TGG",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.2:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453696.2:p.Gly219del",
        "hgvsWellDefined": "ENSP00000453696.2:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 741,
          "referenceAllele": "TGG",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.2:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453513.2:p.Gly219del",
        "hgvsWellDefined": "ENSP00000453513.2:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914281"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 742,
          "referenceAllele": "TGG",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.6:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Gly219del",
        "hgvsWellDefined": "ENSP00000454071.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.654_656del"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.654_656del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Gly219del"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Gly219del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 910,
          "referenceAllele": "TGG",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.9:c.908_910del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247326"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1829,
          "referenceAllele": "TGG",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000455727.6:c.314-1832_314-1830del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397829.2:n.314-1832_314-1830del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 619,
          "referenceAllele": "TGG",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000535915.5:c.531_533del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440520.1:p.Gly178del",
        "hgvsWellDefined": "ENSP00000440520.1:p.Gly178del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246643"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1002,
          "referenceAllele": "TGG",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000545707.5:c.314-1005_314-1003del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437639.1:n.314-1005_314-1003del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247253"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 743,
          "referenceAllele": "TGG",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000557933.5:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453557.1:p.Gly219del",
        "hgvsWellDefined": "ENSP00000453557.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 727,
          "referenceAllele": "TGG",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558013.5:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453346.1:p.Gly219del",
        "hgvsWellDefined": "ENSP00000453346.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247327"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 843,
          "referenceAllele": "TGG",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.5:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Gly219del",
        "hgvsWellDefined": "ENSP00000454071.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246630"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 256,
          "referenceAllele": "TGG",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.1:c.254_256del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250455",
      "coordinates": [
        {
          "allele": "",
          "end": 843,
          "referenceAllele": "TGG",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.4:c.654_656del",
        "LRG_274t1:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Gly219del",
        "hgvsWellDefined": "NP_000518.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915998690",
      "coordinates": [
        {
          "allele": "",
          "end": 843,
          "referenceAllele": "TGG",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.1:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Gly219del",
        "hgvsWellDefined": "NP_001182727.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826212457",
      "coordinates": [
        {
          "allele": "",
          "end": 720,
          "referenceAllele": "TGG",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.1:c.531_533del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Gly178del",
        "hgvsWellDefined": "NP_001182728.1:p.Gly178del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016675"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 1829,
          "referenceAllele": "TGG",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.1:c.314-1832_314-1830del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:n.314-1832_314-1830del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016676"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 1002,
          "referenceAllele": "TGG",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.1:c.314-1005_314-1003del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:n.314-1005_314-1003del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016677"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "referenceAllele": "TGG",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.1:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Gly219del",
        "hgvsWellDefined": "XP_011526312.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 1002,
          "referenceAllele": "TGG",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528011.1:c.314-1005_314-1003del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526313.1:n.314-1005_314-1003del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "referenceAllele": "TGG",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_244074.2:n.804_806del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 773,
          "referenceAllele": "TGG",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.2:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Gly219del",
        "hgvsWellDefined": "XP_011526312.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548934"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 773,
          "referenceAllele": "TGG",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753685.2:n.771_773del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 773,
          "referenceAllele": "TGG",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753686.2:n.771_773del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250455",
      "coordinates": [
        {
          "allele": "",
          "end": 742,
          "referenceAllele": "TGG",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.5:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Gly219del",
        "hgvsWellDefined": "NP_000518.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.654_656del"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.654_656del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Gly219del"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Gly219del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915998690",
      "coordinates": [
        {
          "allele": "",
          "end": 742,
          "referenceAllele": "TGG",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.654_656del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Gly219del",
        "hgvsWellDefined": "NP_001182727.1:p.Gly219del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826212457",
      "coordinates": [
        {
          "allele": "",
          "end": 619,
          "referenceAllele": "TGG",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.531_533del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Gly178del",
        "hgvsWellDefined": "NP_001182728.1:p.Gly178del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1829,
          "referenceAllele": "TGG",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.314-1832_314-1830del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:n.314-1832_314-1830del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1002,
          "referenceAllele": "TGG",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.314-1005_314-1003del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:n.314-1005_314-1003del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}