Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586453_41586455del , CM000679.2:g.41586453_41586455del | GRCh38 |
| NC_000017.10:g.39742705_39742707del , CM000679.1:g.39742705_39742707del | GRCh37 |
| NC_000017.9:g.36996231_36996233del | NCBI36 |
| NG_008624.1:g.5444_5446del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.383_385del MANE Select | ENSP00000167586.6:p.Ser128del | |
| ENST00000167586.6:c.383_385del | ENSP00000167586.6:p.Ser128del | |
| NM_000526.4:c.383_385del | NP_000517.2:p.Ser128del | |
| NM_000526.5:c.383_385del MANE Select | NP_000517.3:p.Ser128del |