HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC | GRCh38 |
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC | GRCh37 |
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC | NCBI36 |
NG_015885.1:g.35982_35983insTGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC MANE Select | ENSP00000270349.9:n.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTT... | |
ENST00000270349.11:c.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC | ENSP00000270349.9:n.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTT... | |
NM_001044.4:c.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC | NP_001035.1:n.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTTCCCCGC... | |
NM_001044.5:c.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC MANE Select | NP_001035.1:n.1156+244_1156+245insTGGCCCCCCACCCAGTGCCTTCCCCGC... |