HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC | GRCh38 |
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC | GRCh37 |
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC | NCBI36 |
NG_015885.1:g.35930_35931insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCC... | |
ENST00000270349.11:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC | ENSP00000270349.9:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCC... | |
NM_001044.4:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC | NP_001035.1:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCC... | |
NM_001044.5:c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC MANE Select | NP_001035.1:n.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCC... |