Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366173del , CM000672.2:g.133366173del | GRCh38 |
| NC_000010.10:g.135179677del , CM000672.1:g.135179677del | GRCh37 |
| NC_000010.9:g.135029667del | NCBI36 |
| NG_042077.1:g.12235del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.620-75del MANE Select | ENSP00000357535.3:n.620-75del | |
| ENST00000368547.3:c.620-75del | ENSP00000357535.3:n.620-75del | |
| NM_004092.3:c.620-75del | NP_004083.3:n.620-75del | |
| XR_002956965.1:n.1401del | ||
| NM_004092.4:c.620-75del MANE Select | NP_004083.3:n.620-75del |