HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414499_1414500insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.2:g.1414499_1414500insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG | GRCh38 |
NC_000005.9:g.1414614_1414615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.1:g.1414614_1414615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG | GRCh37 |
NC_000005.8:g.1467614_1467615insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG | NCBI36 |
NG_015885.1:g.35930_35931insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCC... | |
ENST00000270349.11:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC | ENSP00000270349.9:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCC... | |
NM_001044.4:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC | NP_001035.1:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCC... | |
NM_001044.5:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC MANE Select | NP_001035.1:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCC... |