Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013434_25013436del , CM000685.2:g.25013434_25013436del | GRCh38 |
| NC_000023.10:g.25031551_25031553del , CM000685.1:g.25031551_25031553del | GRCh37 |
| NC_000023.9:g.24941472_24941474del | NCBI36 |
| NG_008281.1:g.7513_7515del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.559_561del MANE Select | ENSP00000368332.4:p.Pro187del | |
| ENST00000379044.4:c.559_561del | ENSP00000368332.4:p.Pro187del | |
| NM_139058.2:c.559_561del | NP_620689.1:p.Pro187del | |
| NM_139058.3:c.559_561del MANE Select | NP_620689.1:p.Pro187del |