Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004893del , CM000685.2:g.25004893del | GRCh38 |
| NC_000023.10:g.25023010del , CM000685.1:g.25023010del | GRCh37 |
| NC_000023.9:g.24932931del | NCBI36 |
| NG_008281.1:g.16061del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.1471del MANE Select | NP_620689.1:p.Leu491Ter |
| ENST00000379044.5:c.1471del MANE Select | ENSP00000368332.4:p.Leu491Ter |
| NM_139058.2:c.1471del | NP_620689.1:p.Leu491Ter |
| ENST00000379044.4:c.1471del | ENSP00000368332.4:p.Leu491Ter |
| ENST00000636885.1:n.59del |