HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414424_1414425insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG , CM000667.2:g.1414424_1414425insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG | GRCh38 |
NC_000005.9:g.1414539_1414540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG , CM000667.1:g.1414539_1414540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG | GRCh37 |
NC_000005.8:g.1467539_1467540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG | NCBI36 |
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT MANE Select | ENSP00000270349.9:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCC... | |
ENST00000270349.11:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT | ENSP00000270349.9:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCC... | |
NM_001044.4:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT | NP_001035.1:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCAC... | |
NM_001044.5:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT MANE Select | NP_001035.1:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCAC... |