Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030486_94030492del , CM000663.2:g.94030486_94030492del | GRCh38 |
| NC_000001.10:g.94496042_94496048del , CM000663.1:g.94496042_94496048del | GRCh37 |
| NC_000001.9:g.94268630_94268636del | NCBI36 |
| NG_009073.1:g.95658_95664del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4288_4294del MANE Select | ENSP00000359245.3:p.Leu1430ThrfsTer4 | |
| ENST00000370225.3:c.4288_4294del | ENSP00000359245.3:p.Leu1430ThrfsTer4 | |
| ENST00000536513.5:c.664_670del | ENSP00000439707.2:p.Leu222ThrfsTer4 | |
| NM_000350.2:c.4288_4294del | NP_000341.2:p.Leu1430ThrfsTer4 | |
| NM_000350.3:c.4288_4294del MANE Select | NP_000341.2:p.Leu1430ThrfsTer4 |