Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740677_153740685del , CM000685.2:g.153740677_153740685del | GRCh38 |
| NC_000023.10:g.153006131_153006139del , CM000685.1:g.153006131_153006139del | GRCh37 |
| NC_000023.9:g.152659325_152659333del | NCBI36 |
| NG_009022.2:g.20810_20818del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1738_1746del MANE Select | ENSP00000218104.3:p.Leu580_Val582del | |
| ENST00000218104.5:c.1738_1746del | ENSP00000218104.3:p.Leu580_Val582del | |
| NM_000033.3:c.1738_1746del | NP_000024.2:p.Leu580_Val582del | |
| XR_938507.1:n.2210_2218del | ||
| XR_938507.2:n.2210_2218del | ||
| NM_000033.4:c.1738_1746del MANE Select | NP_000024.2:p.Leu580_Val582del |