Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851187_135851189delinsACT , CM000664.2:g.135851187_135851189delinsACT | GRCh38 |
| NC_000002.11:g.136608757_136608759delinsACT , CM000664.1:g.136608757_136608759delinsACT | GRCh37 |
| NC_000002.10:g.136325227_136325229delinsACT | NCBI36 |
| NG_008104.2:g.8981_8983delinsAGT , LRG_338:g.8981_8983delinsAGT | |
| NG_008958.1:g.30253_30255delinsAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+213_1917+215delinsAGT MANE Select | ENSP00000264156.2:n.1917+213_1917+215deli... | |
| ENST00000264156.2:c.1917+213_1917+215delinsAGT | ENSP00000264156.2:n.1917+213_1917+215deli... | |
| ENST00000483902.1:n.544+213_544+215delinsAGT | ||
| ENST00000492091.1:n.343+213_343+215delinsAGT | ||
| NM_005915.5:c.1917+213_1917+215delinsAGT | NP_005906.2:n.1917+213_1917+215delinsAGT | |
| NM_005915.6:c.1917+213_1917+215delinsAGT MANE Select | NP_005906.2:n.1917+213_1917+215delinsAGT |