MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725764_153725786del , CM000685.2:g.153725764_153725786del | GRCh38 |
| NC_000023.10:g.152991219_152991241del , CM000685.1:g.152991219_152991241del | GRCh37 |
| NC_000023.9:g.152644413_152644435del | NCBI36 |
| NG_009022.2:g.5897_5919del | |
| NG_023231.1:g.3964_3986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.498_520del MANE Select | ENSP00000218104.3:p.Val167LeufsTer20 | |
| ENST00000218104.5:c.498_520del | ENSP00000218104.3:p.Val167LeufsTer20 | |
| NM_000033.3:c.498_520del | NP_000024.2:p.Val167LeufsTer20 | |
| XR_938507.1:n.914_936del | ||
| XR_938507.2:n.914_936del | ||
| NM_000033.4:c.498_520del MANE Select | NP_000024.2:p.Val167LeufsTer20 |