HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA , CM000685.2:g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA | GRCh38 |
NC_000023.10:g.25031119_25031120insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA , CM000685.1:g.25031119_25031120insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA | GRCh37 |
NC_000023.9:g.24941040_24941041insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA | NCBI36 |
NG_008281.1:g.7946_7947insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG MANE Select | ENSP00000368332.4:p.Arg332SerfsTer11 | |
ENST00000379044.4:c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG | ENSP00000368332.4:p.Arg332SerfsTer11 | |
NM_139058.2:c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG | NP_620689.1:p.Arg332SerfsTer11 | |
NM_139058.3:c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG MANE Select | NP_620689.1:p.Arg332SerfsTer11 |