Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764406del , CM000674.2:g.57764406del | GRCh38 |
| NC_000012.11:g.58158189del , CM000674.1:g.58158189del | GRCh37 |
| NC_000012.10:g.56444456del | NCBI36 |
| NG_007076.1:g.7788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1189del | ENSP00000518840.1:p.Leu397Ter | |
| ENST00000713545.1:c.*113del | ENSP00000518841.1:n.*113del | |
| ENST00000228606.9:c.1108del MANE Select | ENSP00000228606.4:p.Leu370Ter | |
| ENST00000228606.8:c.1108del | ENSP00000228606.4:p.Leu370Ter | |
| ENST00000546567.5:c.403del | ENSP00000449472.1:p.Leu135Ter | |
| ENST00000547344.5:n.1247del | ||
| NM_000785.3:c.1108del | NP_000776.1:p.Leu370Ter | |
| NM_000785.4:c.1108del MANE Select | NP_000776.1:p.Leu370Ter |