Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293297_17293298del , CM000669.2:g.17293297_17293298del | GRCh38 |
| NC_000007.13:g.17332921_17332922del , CM000669.1:g.17332921_17332922del | GRCh37 |
| NC_000007.12:g.17299446_17299447del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642825.1:c.-202-3000_-202-2999del | ENSP00000495987.1:n.-202-3000_-202-2999de... | |
| XR_927069.1:n.293+1876_293+1877del | ||
| XR_927070.1:n.293+1876_293+1877del | ||
| XR_927071.1:n.293+1876_293+1877del | ||
| XR_927072.1:n.294+1876_294+1877del | ||
| XR_927073.1:n.295+1876_295+1877del | ||
| XR_927073.2:n.295+1876_295+1877del |