{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170815",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.1610del (p.Ile537AsnfsTer21)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166092[alleleid]",
        "alleleId": 166092,
        "preferredName": "NM_000477.7(ALB):c.1610del (p.Ile537fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156312",
        "RCV": [
          "RCV000144396"
        ],
        "variationId": 156312
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74283986del?assembly=hg19",
        "id": "chr4:g.74283986del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73418269del?assembly=hg38",
        "id": "chr4:g.73418269del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77081291",
        "rs": 77081291
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 73418269,
          "referenceAllele": "T",
          "start": 73418268
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73418269del",
        "CM000666.2:g.73418269del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 74283986,
          "referenceAllele": "T",
          "start": 74283985
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74283986del",
        "CM000666.1:g.74283986del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 74502850,
          "referenceAllele": "T",
          "start": 74502849
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74502850del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 19015,
          "referenceAllele": "T",
          "start": 19014
        }
      ],
      "hgvs": [
        "NG_009291.1:g.19015del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.1610del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Ile537AsnfsTer21",
        "hgvsWellDefined": "ENSP00000295897.4:p.[Ile537_Glu544delinsAsnAlaHisPheLeuArgArg;Gln546_Ile547delinsAsp;Lys549_Ala552delinsSerArgAsnLys;Val554_Glu555delinsHisLeu;Val557_Glu566delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1610del"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1610del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Ile537AsnfsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Ile537AsnfsTer21"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1699,
          "referenceAllele": "T",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.1610del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Ile537AsnfsTer21",
        "hgvsWellDefined": "ENSP00000295897.4:p.[Ile537_Glu544delinsAsnAlaHisPheLeuArgArg;Gln546_Ile547delinsAsp;Lys549_Ala552delinsSerArgAsnLys;Val554_Glu555delinsHisLeu;Val557_Glu566delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.1265del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:p.Ile422AsnfsTer21",
        "hgvsWellDefined": "ENSP00000384695.3:p.[Ile422_Glu429delinsAsnAlaHisPheLeuArgArg;Gln431_Ile432delinsAsp;Lys434_Ala437delinsSerArgAsnLys;Val439_Glu440delinsHisLeu;Val442_Glu451delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1075,
          "referenceAllele": "T",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.1034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:p.Ile345AsnfsTer21",
        "hgvsWellDefined": "ENSP00000401820.2:p.[Ile345_Glu352delinsAsnAlaHisPheLeuArgArg;Gln354_Ile355delinsAsp;Lys357_Ala360delinsSerArgAsnLys;Val362_Glu363delinsHisLeu;Val365_Glu374delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.*889del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:n.*889del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 264,
          "referenceAllele": "T",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000486939.1:n.264del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1367,
          "referenceAllele": "T",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.1160del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:p.Ile387AsnfsTer21",
        "hgvsWellDefined": "ENSP00000421027.1:p.[Ile387_Glu394delinsAsnAlaHisPheLeuArgArg;Gln396_Ile397delinsAsp;Lys399_Ala402delinsSerArgAsnLys;Val404_Glu405delinsHisLeu;Val407_Glu416delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000505649.5:n.1157del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337381"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1634,
          "referenceAllele": "T",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.1610del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Ile537AsnfsTer21",
        "hgvsWellDefined": "ENSP00000422784.1:p.[Ile537_Glu544delinsAsnAlaHisPheLeuArgArg;Gln546_Ile547delinsAsp;Lys549_Ala552delinsSerArgAsnLys;Val554_Glu555delinsHisLeu;Val557_Glu566delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1143,
          "referenceAllele": "T",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000511370.1:c.1143del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341652"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1012,
          "referenceAllele": "T",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.971del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:p.Ile324AsnfsTer21",
        "hgvsWellDefined": "ENSP00000483421.1:p.[Ile324_Glu331delinsAsnAlaHisPheLeuArgArg;Gln333_Ile334delinsAsp;Lys336_Ala339delinsSerArgAsnLys;Val341_Glu342delinsHisLeu;Val344_Glu353delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1044,
          "referenceAllele": "T",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.971del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:p.Ile324AsnfsTer21",
        "hgvsWellDefined": "ENSP00000480485.1:p.[Ile324_Glu331delinsAsnAlaHisPheLeuArgArg;Gln333_Ile334delinsAsp;Lys336_Ala339delinsSerArgAsnLys;Val341_Glu342delinsHisLeu;Val344_Glu353delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.1610del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Ile537AsnfsTer21",
        "hgvsWellDefined": "NP_000468.1:p.[Ile537_Glu544delinsAsnAlaHisPheLeuArgArg;Gln546_Ile547delinsAsp;Lys549_Ala552delinsSerArgAsnLys;Val554_Glu555delinsHisLeu;Val557_Glu566delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1699,
          "referenceAllele": "T",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.1610del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Ile537AsnfsTer21",
        "hgvsWellDefined": "NP_000468.1:p.[Ile537_Glu544delinsAsnAlaHisPheLeuArgArg;Gln546_Ile547delinsAsp;Lys549_Ala552delinsSerArgAsnLys;Val554_Glu555delinsHisLeu;Val557_Glu566delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.1610del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Ile537AsnfsTer21",
        "hgvsWellDefined": "NP_000468.1:p.[Ile537_Glu544delinsAsnAlaHisPheLeuArgArg;Gln546_Ile547delinsAsp;Lys549_Ala552delinsSerArgAsnLys;Val554_Glu555delinsHisLeu;Val557_Glu566delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1610del"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1610del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Ile537AsnfsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Ile537AsnfsTer21"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}