HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC | GRCh38 |
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC | GRCh37 |
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC | NCBI36 |
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCT... | |
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCT... | |
NM_001044.4:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG | NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCAGGC... | |
NM_001044.5:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCAGGC... |