HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT , CM000679.2:g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | GRCh38 |
NC_000017.10:g.7915879_7915880insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT , CM000679.1:g.7915879_7915880insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | GRCh37 |
NC_000017.9:g.7856604_7856605insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | NCBI36 |
NG_009092.1:g.14892_14893insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT MANE Select | ENSP00000254854.4:p.Leu690ArgfsTer25 | |
ENST00000254854.4:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | ENSP00000254854.4:p.Leu690ArgfsTer25 | |
NM_000180.3:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | NP_000171.1:p.Leu690ArgfsTer25 | |
XM_011523816.1:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | XP_011522118.1:p.Leu690ArgfsTer25 | |
NM_000180.4:c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT MANE Select | NP_000171.1:p.Leu690ArgfsTer25 |