Releases
v3.14.0
Features
Issue key
Summary
NIR-210
Cap VRF to 0.999
Bugs fixed
Unresolved bugs
Issue key
Summary
NIR-220
Nirvana doesn't use the transcript sequence to report the reference amino acids in HGVS p. notations
NIR-219
Nirvana reports ambiguous protein level annotations for CUG start codon variants
NIR-218
Duplicates may be marked as insertions in HGVS
NIR-217
Nirvana produces HGVS insertions notations that are more than one bp apart
NIR-216
Nirvana reports extra ClinVar SNVs where there is no alternate allele in XML source file
NIR-215
Nirvana incorrectly determines gnomAD low complexity regions at translocation breakend boundaries
NIR-214
Nirvana doesn't support regular gzip VCF file
NIR-213
Downloader unintentionally removes genomic reference file
NIR-212
Annotation lambdas run out of disk space when large amounts of CA are submitted
NIR-91
Nirvana should fully right align duplications in HGVS c. notation
NIR-87
Nirvana should detect duplications in HGVS by looking at the transcript sequence.
NIR-86
Nirvana incorrectly handles insertions where RNA-edit insertions already occur
NIR-75
Nirvana doesn't handle 3' UTR intron HGVS c. notation properly
NIR-57
Nirvana produces bizarre HGVS p. notation (NP_001137434.1:p.(Val701_?_fsTer?))
NIR-56
CDS position goes beyond the CDS sequence length (NM_001300952.1)
NIR-55
Nirvana produces a strange CDS position range for NM_001346067.1
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