Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060643del , CM000663.2:g.94060643del | GRCh38 |
| NC_000001.10:g.94526199del , CM000663.1:g.94526199del | GRCh37 |
| NC_000001.9:g.94298787del | NCBI36 |
| NG_009073.1:g.65508del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2055del MANE Select | NP_000341.2:p.Leu686Ter |
| ENST00000370225.4:c.2055del MANE Select | ENSP00000359245.3:p.Leu686Ter |
| NM_000350.2:c.2055del | NP_000341.2:p.Leu686Ter |
| ENST00000370225.3:c.2055del | ENSP00000359245.3:p.Leu686Ter |
| ENST00000472033.1:n.175del | |
| ENST00000536513.5:c.-65+2532del | ENSP00000439707.2:n.-65+2532del |
| ENST00000649773.1:c.2055del | ENSP00000496882.1:p.Leu686Ter |