Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062615_94062620del , CM000663.2:g.94062615_94062620del | GRCh38 |
| NC_000001.10:g.94528171_94528176del , CM000663.1:g.94528171_94528176del | GRCh37 |
| NC_000001.9:g.94300759_94300764del | NCBI36 |
| NG_009073.1:g.63530_63535del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1894_1899del MANE Select | ENSP00000359245.3:p.Ile632_Tyr633del | |
| ENST00000649773.1:c.1894_1899del | ENSP00000496882.1:p.Ile632_Tyr633del | |
| ENST00000370225.3:c.1894_1899del | ENSP00000359245.3:p.Ile632_Tyr633del | |
| ENST00000536513.5:c.-65+554_-65+559del | ENSP00000439707.2:n.-65+554_-65+559del | |
| NM_000350.2:c.1894_1899del | NP_000341.2:p.Ile632_Tyr633del | |
| NM_000350.3:c.1894_1899del MANE Select | NP_000341.2:p.Ile632_Tyr633del |