CA402-NM_007294.3-BRCA1-c.5297T>G

Substitution nucleotide change with all genomic/transcript ContextualAlleles.

JSON-LD

{
  "@context": "http://clingen.org/models/CanonicalAllele.jsonld",
  "@id": "http://clingendb.clingen.org/CanonicalAllele/CA402",
  "@type": "CanonicalAllele",
  "xref":
  [
    "http://www.ncbi.nlm.nih.gov/clinvar/variation/37656"
  ],

  "id" : "CA402",
  "version": "1",
  "relatedIdentifier":
  [
    {
      "@type": "RelatedIdentifier",
      "system": "http://www.ncbi.nlm.nih.gov/clinvar/variation",
      "value": "37656"
    }
  ],
  "active": "true",
  "canonicalAlleleType": "nucleotide",
  "complexity": "simple",
  "relatedContextualAllele":
  [
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI310",
      "display": "NM_007294.3:c.5297T>G",
      "preferred": "true"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI311",
      "display": "U14681.1(BRCA1):n.5416T>G"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI313",
      "display": "NR_027676.1:n.5433T>G"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI314",
      "display": "NC_000017.10:g.41203115A>C (GRCh37)"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI315",
      "display": "NC_000017.11:g.43051098A>C (GRCh38)"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI316",
      "display": "NG_005905.2:g.166886T>G"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI317",
      "display": "LRG_292:g.166886T>G"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI318",
      "display": "LRG_292t1:c.5297T>G"
    }
  ]
}

example: CA402-NM_007294.3-BRCA1-c.5297T>G.json

XML

<?xml version="1.0" encoding="UTF-8"?>
<CanonicalAllele xmlns="http://clingen.org/dm/allele/v1"
	xmlns:f="http://hl7.org/fhir" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"
	xsi:schemaLocation="http://clingen.org/dm/allele/v1 ../clingen-xsd/canonicalallele.xsd ">
	<f:id value="CA402"></f:id>
	<version value="1"></version>
	<relatedIdentifier>
		<f:system value="http://www.ncbi.nlm.nih.gov/clinvar/variation"></f:system>
		<f:value value="37656"></f:value>
	</relatedIdentifier>
	<active value="true"></active>
	<canonicalAlleleType value="nucleotide"></canonicalAlleleType>
	<complexity value="simple" />
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA310"></f:reference>
			<f:display value="NM_007294.3:c.5297T&gt;G"></f:display>
		</contextualAllele>
		<preferred value="true"></preferred>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA311"></f:reference>
			<f:display value="U14681.1(BRCA1):n.5416T&gt;G "></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA313"></f:reference>
			<f:display value="NR_027676.1:n.5433T&gt;G"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA314"></f:reference>
			<f:display value="NC_000017.10:g.41203115A&gt;C (GRCh37)"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA315"></f:reference>
			<f:display value="NC_000017.11:g.43051098A&gt;C (GRCh38)"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA316"></f:reference>
			<f:display value="NG_005905.2:g.166886T&gt;G"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA317"></f:reference>
			<f:display value="LRG_292:g.166886T&gt;G"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/SA318"></f:reference>
			<f:display value="LRG_292t1:c.5297T&gt;G"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
</CanonicalAllele>

example: CA402-NM_007294.3-BRCA1-c.5297T>G.xml

schema: CanonicalAllele.xsd

JSON

{
  "id": "CA402",
  "version": "1",
  "relatedIdentifier":
  [
    {
      "system": "http://www.ncbi.nlm.nih.gov/clinvar/variation",
      "value": "37656"
    }
  ],

  "active": "true",
  "canonicalAlleleType": "nucleotide",
  "complexity": "simple",
  "relatedContextualAllele":
  [
    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI310",
        "display": "NM_007294.3:c.5297T>G"
      },

      "preferred": "true"
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI311",
        "display": "U14681.1(BRCA1):n.5416T>G"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI313",
        "display": "NR_027676.1:n.5433T>G"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI314",
        "display": "NC_000017.10:g.41203115A>C (GRCh37)"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI315",
        "display": "NC_000017.11:g.43051098A>C (GRCh38)"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI316",
        "display": "NG_005905.2:g.166886T>G"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI317",
        "display": "LRG_292:g.166886T>G"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI318",
        "display": "LRG_292t1:c.5297T>G"
      }
    }
  ]
}

example: CA402-NM_007294.3-BRCA1-c.5297T>G.json