Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813978_129813980del , CM000671.2:g.129813978_129813980del | GRCh38 |
| NC_000009.11:g.132576257_132576259del , CM000671.1:g.132576257_132576259del | GRCh37 |
| NC_000009.10:g.131616078_131616080del | NCBI36 |
| NG_008049.1:g.15186_15188del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.994_996del MANE Select | ENSP00000345719.4:p.Asp332del | |
| ENST00000651202.1:c.*262_*264del | ENSP00000498222.1:n.*262_*264del | |
| ENST00000351698.4:c.994_996del | ENSP00000345719.4:p.Asp332del | |
| ENST00000474192.1:n.578_580del | ||
| NM_000113.2:c.994_996del | NP_000104.1:p.Asp332del | |
| XR_929731.3:n.1189_1191del | ||
| NM_000113.3:c.994_996del MANE Select | NP_000104.1:p.Asp332del |