Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011318_94011323del , CM000663.2:g.94011318_94011323del | GRCh38 |
| NC_000001.10:g.94476874_94476879del , CM000663.1:g.94476874_94476879del | GRCh37 |
| NC_000001.9:g.94249462_94249467del | NCBI36 |
| NG_009073.1:g.114832_114837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5528_5533del MANE Select | ENSP00000359245.3:p.Arg1843_Gly1844del | |
| ENST00000370225.3:c.5528_5533del | ENSP00000359245.3:p.Arg1843_Gly1844del | |
| ENST00000536513.5:c.1904_1909del | ENSP00000439707.2:p.Arg635_Gly636del | |
| NM_000350.2:c.5528_5533del | NP_000341.2:p.Arg1843_Gly1844del | |
| NM_000350.3:c.5528_5533del MANE Select | NP_000341.2:p.Arg1843_Gly1844del |