Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157222992_157222994del , CM000667.2:g.157222992_157222994del | GRCh38 |
| NC_000005.9:g.156650002_156650004del , CM000667.1:g.156650002_156650004del | GRCh37 |
| NC_000005.8:g.156582580_156582582del | NCBI36 |
| NG_016276.1:g.47096_47098del , LRG_189:g.47096_47098del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005546.4:c.625_627del MANE Select | NP_005537.3:p.Trp209del |
| ENST00000422843.8:c.625_627del MANE Select | ENSP00000398655.4:p.Trp209del |
| NM_005546.3:c.625_627del , LRG_189t1:c.625_627del | NP_005537.3:p.Trp209del |
| ENST00000422843.7:c.625_627del | ENSP00000398655.3:p.Trp209del |
| ENST00000519402.5:n.760_762del | |
| ENST00000519759.1:n.244_246del | |
| ENST00000696962.1:c.625_627del | ENSP00000513001.1:p.Trp209del |
| XM_017009443.1:c.250_252del | XP_016864932.1:p.Trp84del |