Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008244del , CM000663.2:g.94008244del | GRCh38 |
| NC_000001.10:g.94473800del , CM000663.1:g.94473800del | GRCh37 |
| NC_000001.9:g.94246388del | NCBI36 |
| NG_009073.1:g.117908del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5891del MANE Select | ENSP00000359245.3:p.Pro1964LeufsTer10 | |
| ENST00000370225.3:c.5891del | ENSP00000359245.3:p.Pro1964LeufsTer10 | |
| ENST00000465352.1:n.307del | ||
| ENST00000536513.5:c.2267del | ENSP00000439707.2:p.Pro756LeufsTer10 | |
| NM_000350.2:c.5891del | NP_000341.2:p.Pro1964LeufsTer10 | |
| NM_000350.3:c.5891del MANE Select | NP_000341.2:p.Pro1964LeufsTer10 |