Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23647203_23647232del , CM000677.2:g.23647203_23647232del | GRCh38 |
| NC_000015.9:g.23892350_23892379del , CM000677.1:g.23892350_23892379del | GRCh37 |
| NC_000015.8:g.21443443_21443472del | NCBI36 |
| NG_016776.1:g.5643_5672del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019066.5:c.539_568del MANE Select | NP_061939.3:p.Val180_Met189del |
| ENST00000650528.1:c.539_568del MANE Select | ENSP00000497810.1:p.Val180_Met189del |
| NM_019066.4:c.539_568del | NP_061939.3:p.Val180_Met189del |
| ENST00000532292.2:c.539_568del | ENSP00000433433.2:p.Val180_Met189del |