# hg38: run of 15 A's from chr9:133,269,985-133,269,999 # HGVS insertion on the right, forward strand of genome: NC_000009.12:g.133269999_133270000insA NC_000009.12:g.133269999_133270000insAAAA NC_000009.12:g.133269999_133270000insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA # Deletions NC_000009.12:g.133269999del NC_000009.12:g.133269990_133269999del # This should not be shifted: NC_000009.12:g.133269984_133269999del # NM_020469.2(ABO) utr3 exon has run of 5 AC's on - strand; GT on + chr9:133,255,436-133,255,445 NC_000009.12:g.133255445_133255446insGT NC_000009.12:g.133255445_133255446insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT NC_000009.12:g.133255445_133255446del # This should not be shifted: NC_000009.12:g.133255445_133255447del # NM_020469.2(ABO) utr3 exon has run of 5 AC's on - strand; GT on + chr9:133,255,436-133,255,445 # 000001309 tcacacacacacc 000001321 # <<<<<<<<< ||||||||||||| <<<<<<<<< # 133255447 tcacacacacacc 133255435 # The repeat range in NM_020469.2 mRNA coords is (1-based) 1310 - 1319 # HGVS UTR3 coords are relative to cdsEnd which is 1090 for NM_020469.2. # Subtracting 1090, the c. coords of the repeat region are (1-based) 220 - 229. # This actually needs to be shifted right one base because there is a C after all the CACA: NM_020469.3:c.*229_*230insCA # This is properly right-shifted on NM_020469.2, so due to strand-swapping it is # already left-shifted on the genome and does not need to be left-shifted for VCF: NM_020469.3:c.*230_*231insAC # But somebody might forego right-alignment on NM_020469.2, meaning we would # need to left-shift on the genome for VCF: NM_020469.3:c.*221_*222insCA NM_020469.3:c.*220_*221insAC NM_020469.3:c.*219_*220insCA # Try indels at (or shiftable to) the beginning of a chrom. chr9 begins with Ns. # What are the proper HGVS coordinates for insertion at the beginning of a sequence? NC_000009.12:g.1del NC_000009.12:g.2del NC_000009.12:g.10000del NC_000009.12:g.1_10del NC_000009.12:g.2_11del NC_000009.12:g.1_2insN NC_000009.12:g.1_2insNNNNNNNNNNNNNNNN NC_000009.12:g.2_3insN # These are not shiftable. NC_000009.12:g.1_2insA NC_000009.12:g.1_2insAAAAAAAAAAAAAAAA NC_000009.12:g.2_3insA