Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA | GRCh38 |
| NC_000005.9:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA | GRCh37 |
| NC_000005.8:g.1467584_1467585insGGTGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA | NCBI36 |
| NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCACC MANE Select | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCT... | |
| ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCACC | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCT... | |
| NM_001044.4:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCACC | NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGC... | |
| NM_001044.5:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCACC MANE Select | NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGC... |