Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491689_11491713delinsTTTTTCTAGTACCCAGAAACAAACA , CM000670.2:g.11491689_11491713delinsTTTTTCTAGTACCCAGAAACAAACA | GRCh38 |
| NC_000008.10:g.11349198_11349222delinsTTTTTCTAGTACCCAGAAACAAACA , CM000670.1:g.11349198_11349222delinsTTTTTCTAGTACCCAGAAACAAACA | GRCh37 |
| NC_000008.9:g.11386607_11386631delinsTTTTTCTAGTACCCAGAAACAAACA | NCBI36 |
| NG_023543.1:g.2678_2702delinsTTTTTCTAGTACCCAGAAACAAACA | |
| NG_023543.2:g.2678_2702delinsTTTTTCTAGTACCCAGAAACAAACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696154.2:n.274+4522_274+4546delinsTTTTTCTAGTACCCAGAAACAAACA | ||
| ENST00000696154.1:c.-91+4522_-91+4546delinsTTTTTCTAGTACCCAGAAACAAACA | ENSP00000512445.1:n.-91+4522_-91+4546deli... | |
| ENST00000645242.1:c.-91+4522_-91+4546delinsTTTTTCTAGTACCCAGAAACAAACA | ENSP00000494690.1:n.-91+4522_-91+4546deli... |