HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431864_23431865insAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGT , CM000676.2:g.23431864_23431865insAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGT | GRCh38 |
NC_000014.8:g.23901073_23901074insAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGT , CM000676.1:g.23901073_23901074insAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGT | GRCh37 |
NC_000014.7:g.22970913_22970914insAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGT | NCBI36 |
NG_007884.1:g.8798_8799insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA , LRG_384:g.8798_8799insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.536_537insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA MANE Select | ENSP00000347507.3:p.Glu179AspfsTer? | |
ENST00000355349.3:c.536_537insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA | ENSP00000347507.3:p.Glu179AspfsTer? | |
NM_000257.3:c.536_537insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA | NP_000248.2:p.Glu179AspfsTer? | |
XR_245686.3:n.642_643insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA | ||
XM_017021340.1:c.536_537insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA | XP_016876829.1:p.Glu179AspfsTer? | |
NM_000257.4:c.536_537insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA MANE Select | NP_000248.2:p.Glu179AspfsTer? |