HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | GRCh38 |
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | GRCh37 |
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | NCBI36 |
NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCC... | |
ENST00000270349.11:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCC... | |
NM_001044.4:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCC... | |
NM_001044.5:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCC... |