HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC | GRCh38 |
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC | GRCh37 |
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC | NCBI36 |
NG_015885.1:g.35959_35960insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT... | |
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT... | |
NM_001044.4:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG | NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGC... | |
NM_001044.5:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGC... |