AlternateBases [beacon-v2]

{S}[B] Status Level [i]
Used by
Source (2.0.0-draft.1)


Type: string
Pattern: ^([ACGTN]+)$
Description: The bases that appear instead of the reference bases. Accepted values: [ACGTN]*. N is a wildcard, that denotes the position of any base, and can be used as a standalone base of any type or within a partially known sequence. For example a sequence where the first and last bases are known, but the middle portion can exhibit countless variations of [ACGT], or the bases are unknown: ANNT the Ns can take take any form of [ACGT], which makes both ACCT and ATGT (or any other combination) viable sequences. Symbolic ALT alleles (DEL, INS, DUP, INV, CNV, DUP:TANDEM, DEL:ME, INS:ME) will be represented in variantType. Optional: either alternateBases or variantType is required.