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Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
Raw JSON (canonical form + also see JSON Format Specification)
BCR-ABL1 fusion (COSMIC https://cancer.sanger.ac.uk/cosmic/fusion/summary?id=1755). 5-prime end comprised of BCR exons 1-14. 3-prime end comprised of ABL1 exons 2-11.
{ "resourceType": "MolecularSequence", "id": "sequence-example-fusion", "text": { "status": "generated", "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"sequence-example-fusion\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource MolecularSequence "sequence-example-fusion" </p></div><p><b>type</b>: rna</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 1</p><p><b>sequenceRange</b>: 1-3234</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>NM_004327.4 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NM_004327.4)</span></td><td>1</td><td>3234</td></tr></table></blockquote><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 2</p><p><b>sequenceRange</b>: 3235-8367</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>NM_005157.6 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (nuccore#NM_005157.6)</span></td><td>174</td><td>5306</td></tr></table></blockquote></div>" }, "type": "rna", "relative": [ { "coordinateSystem": { "coding": [ { "system": "http://loinc.org", "code": "LA30102-0", "display": "1-based character counting" } ] }, "ordinalPosition": 1, "sequenceRange": { "low": { "value": 1 }, "high": { "value": 3234 } }, "startingSequence": { "sequenceCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NM_004327.4" } ] }, "windowStart": 1, "windowEnd": 3234 } }, { "coordinateSystem": { "coding": [ { "system": "http://loinc.org", "code": "LA30102-0", "display": "1-based character counting" } ] }, "ordinalPosition": 2, "sequenceRange": { "low": { "value": 3235 }, "high": { "value": 8367 } }, "startingSequence": { "sequenceCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NM_005157.6" } ] }, "windowStart": 174, "windowEnd": 5306 } } ] }
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.