Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740609_153740610del , CM000685.2:g.153740609_153740610del | GRCh38 |
| NC_000023.10:g.153006063_153006064del , CM000685.1:g.153006063_153006064del | GRCh37 |
| NC_000023.9:g.152659257_152659258del | NCBI36 |
| NG_009022.2:g.20742_20743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1670_1671del MANE Select | ENSP00000218104.3:p.Val557AspfsTer? | |
| ENST00000218104.5:c.1670_1671del | ENSP00000218104.3:p.Val557AspfsTer? | |
| NM_000033.3:c.1670_1671del | NP_000024.2:p.Val557AspfsTer? | |
| XR_938507.1:n.2142_2143del | ||
| XR_938507.2:n.2142_2143del | ||
| NM_000033.4:c.1670_1671del MANE Select | NP_000024.2:p.Val557AspfsTer? |