Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43068206del , CM000677.2:g.43068206del | GRCh38 |
| NC_000015.9:g.43360404del , CM000677.1:g.43360404del | GRCh37 |
| NC_000015.8:g.41147696del | NCBI36 |
| NG_012182.1:g.42904del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.660-149del MANE Select | NP_777576.1:n.660-149del |
| ENST00000290650.9:c.660-149del MANE Select | ENSP00000290650.4:n.660-149del |
| NM_174916.2:c.660-149del | NP_777576.1:n.660-149del |
| ENST00000290650.8:c.660-149del | ENSP00000290650.4:n.660-149del |
| ENST00000546274.6:c.660-149del | ENSP00000477932.1:n.660-149del |
| ENST00000563239.1:c.*202+2714del | ENSP00000456502.1:n.*202+2714del |