HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG | GRCh38 |
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG | GRCh37 |
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGG | NCBI36 |
NG_015885.1:g.35930_35931insTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCC... | |
ENST00000270349.11:c.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC | ENSP00000270349.9:n.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCC... | |
NM_001044.4:c.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC | NP_001035.1:n.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCCCCACCC... | |
NM_001044.5:c.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select | NP_001035.1:n.1156+192_1156+193insTGCCCTGCCCCTCCAGGCCCCCCACCC... |