HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG | GRCh38 |
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG | GRCh37 |
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG | NCBI36 |
NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCC... | |
ENST00000270349.11:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCC... | |
NM_001044.4:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCC... | |
NM_001044.5:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCC... |