Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414424_1414425insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG , CM000667.2:g.1414424_1414425insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG | GRCh38 |
| NC_000005.9:g.1414539_1414540insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG , CM000667.1:g.1414539_1414540insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG | GRCh37 |
| NC_000005.8:g.1467539_1467540insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG | NCBI36 |
| NG_015885.1:g.36004_36005insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT MANE Select | ENSP00000270349.9:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCC... | |
| ENST00000270349.11:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT | ENSP00000270349.9:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCC... | |
| NM_001044.4:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT | NP_001035.1:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCAC... | |
| NM_001044.5:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT MANE Select | NP_001035.1:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCAC... |