key: gnomad
name: gnomAD variant
description: gnomAD-style genomic variant coordinates (chrom-pos-ref-alt).
# A dash-delimited coordinate, chromosome-position-reference-alternate, for
# example 1-55516888-G-A. This is the key most pipelines use once a variant's
# identity is resolved, and the form a VCF row reduces to. An optional lowercase
# chr prefix is accepted. Both alleles are required, so an empty reference or
# alternate is rejected. Pattern mode checks the coordinate shape only, not that
# the variant exists or which genome build it refers to. Alleles are matched
# uppercase; a lowercase allele is suggested in uppercase.
pattern: '(?:chr)?(?:[1-9]|1[0-9]|2[0-2]|X|Y|MT?)-[0-9]+-[ACGTN]+-[ACGTN]+'
example: '1-55516888-G-A'
species_aware: false
version_aware: false
normalize:
  case: upper
provenance:
  pattern_source: gnomad
  homepage: https://gnomad.broadinstitute.org
