HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414469_1414470insGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCA | GRCh38 |
NC_000005.9:g.1414584_1414585insGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCA | GRCh37 |
NC_000005.8:g.1467584_1467585insGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGTGGAGAAGGCA | NCBI36 |
NG_015885.1:g.35959_35960insTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC MANE Select | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCT... | |
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCT... | |
NM_001044.4:c.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC | NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCTCCCGGC... | |
NM_001044.5:c.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC MANE Select | NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCACCCTGCCCCTCCCGGC... |