Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837577_154837772del , CM000685.2:g.154837577_154837772del | GRCh38 |
| NC_000023.10:g.154065852_154066047del , CM000685.1:g.154065852_154066047del | GRCh37 |
| NC_000023.9:g.153719046_153719241del | NCBI36 |
| NG_011403.1:g.189952_190147del | |
| NG_033065.1:g.1891_2086del | |
| NG_011403.2:g.189952_190147del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.3:c.6901-20_*20del | |
| NM_000132.4:c.6901-20_*20del | |
| NM_019863.2:c.496-20_*20del | |
| NM_019863.3:c.496-20_*20del | |
| ENST00000330287.10:c.496-20_*20del | |
| ENST00000360256.8:c.6901-20_*20del | |
| ENST00000360256.9:c.6901-20_*20del | |
| ENST00000644698.1:c.634-20_*20del | |
| XM_011531126.1:c.6796-20_*20del |