HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA | GRCh38 |
NC_000005.9:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA | GRCh37 |
NC_000005.8:g.1467584_1467585insGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA | NCBI36 |
NG_015885.1:g.35959_35960insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC MANE Select | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT... | |
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT... | |
NM_001044.4:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC | NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGC... | |
NM_001044.5:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC MANE Select | NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGC... |