SimpleNucleotideCanonicalAllele

A stable identifier for a nucleotide allele instance, grouping together the different ways that the allele might be described across different versions of different GenomeReferences and TranscriptReferenceSequences.

Scope and Usage

SimpleNucleotideCanonicalAlleles aggregate different NucleotideContextualAlleles that are different representations of the same genetic variation. Potentially, this aggregates all the versions of the allele in different GenomicReferenceSequences, as well as a TranscriptContextualAllele for any transcript that maps to any of those GenomicReferenceSequences.

Exclusions and Limitations

Aggregation of TranscriptContextualAlleles with GenomicContextualAlleles requires the mapping of a TranscriptReferenceSequence to a GenomicReferenceSequence, and the identification of the Alleles will depend on the details of the mapping process. A more complete version of the allele model would incorporate information about the transcript alignment.

See Also

SimpleCanonicalAllele, NucleotideContextualAllele

Related Resources: CanonicalAllele