HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23424791_23424885delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC , CM000676.2:g.23424791_23424885delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC | GRCh38 |
NC_000014.8:g.23894000_23894094delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC , CM000676.1:g.23894000_23894094delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC | GRCh37 |
NC_000014.7:g.22963840_22963934delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC | NCBI36 |
NG_007884.1:g.15777_15871delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA , LRG_384:g.15777_15871delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000355349.4:c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA MANE Select | ENSP00000347507.3:p.Glu855= | |
ENST00000355349.3:c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | ENSP00000347507.3:p.Glu855= | |
NM_000257.3:c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | NP_000248.2:p.Glu855= | |
XR_245686.3:n.2669_2763delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | ||
XM_017021340.1:c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | XP_016876829.1:p.Glu855= | |
NM_000257.4:c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA MANE Select | NP_000248.2:p.Glu855= |