Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17285491del , CM000669.2:g.17285491del | GRCh38 |
| NC_000007.13:g.17325115del , CM000669.1:g.17325115del | GRCh37 |
| NC_000007.12:g.17291640del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642825.1:c.-202-10806del | ENSP00000495987.1:n.-202-10806del | |
| XR_927069.1:n.567+752del | ||
| XR_927070.1:n.567+752del | ||
| XR_927071.1:n.567+752del | ||
| XR_927072.1:n.568+752del | ||
| XR_927073.2:n.711+752del |