Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997897del , CM000663.2:g.93997897del | GRCh38 |
| NC_000001.10:g.94463453del , CM000663.1:g.94463453del | GRCh37 |
| NC_000001.9:g.94236041del | NCBI36 |
| NG_009073.1:g.128253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6693del MANE Select | ENSP00000359245.3:p.Ile2231MetfsTer16 | |
| ENST00000370225.3:c.6693del | ENSP00000359245.3:p.Ile2231MetfsTer16 | |
| ENST00000536513.5:c.3069del | ENSP00000439707.2:p.Ile1023MetfsTer16 | |
| NM_000350.2:c.6693del | NP_000341.2:p.Ile2231MetfsTer16 | |
| NM_000350.3:c.6693del MANE Select | NP_000341.2:p.Ile2231MetfsTer16 |