HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG , CM000679.2:g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | GRCh38 |
NC_000017.10:g.7915879_7915880insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG , CM000679.1:g.7915879_7915880insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | GRCh37 |
NC_000017.9:g.7856604_7856605insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | NCBI36 |
NG_009092.1:g.14892_14893insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG MANE Select | ENSP00000254854.4:p.Leu690ArgfsTer25 | |
ENST00000254854.4:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | ENSP00000254854.4:p.Leu690ArgfsTer25 | |
NM_000180.3:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | NP_000171.1:p.Leu690ArgfsTer25 | |
XM_011523816.1:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | XP_011522118.1:p.Leu690ArgfsTer25 | |
NM_000180.4:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG MANE Select | NP_000171.1:p.Leu690ArgfsTer25 |