HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414424_1414425insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGG , CM000667.2:g.1414424_1414425insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGG | GRCh38 |
NC_000005.9:g.1414539_1414540insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGG , CM000667.1:g.1414539_1414540insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGG | GRCh37 |
NC_000005.8:g.1467539_1467540insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGG | NCBI36 |
NG_015885.1:g.36004_36005insCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT MANE Select | ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCC... | |
ENST00000270349.11:c.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT | ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCC... | |
NM_001044.4:c.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT | NP_001035.1:n.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCCCCCCAC... | |
NM_001044.5:c.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT MANE Select | NP_001035.1:n.1156+266_1156+267insCCTGCCCTGCCCCTCCAGGCCCCCCAC... |