Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732027del , CM000685.2:g.8732027del | GRCh38 |
| NC_000023.10:g.8700068del , CM000685.1:g.8700068del | GRCh37 |
| NC_000023.9:g.8660068del | NCBI36 |
| NG_007088.1:g.5163del | |
| NG_007088.2:g.5163del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.13del MANE Select | ENSP00000262648.3:p.Val5CysfsTer6 | |
| ENST00000262648.7:c.13del | ENSP00000262648.3:p.Val5CysfsTer6 | |
| ENST00000619786.1:c.13del | ENSP00000478734.1:p.Val5CysfsTer6 | |
| NM_000216.2:c.13del | NP_000207.2:p.Val5CysfsTer6 | |
| XM_005274501.3:c.13del | XP_005274558.1:p.Val5CysfsTer6 | |
| NM_000216.3:c.13del | NP_000207.2:p.Val5CysfsTer6 | |
| XM_005274501.4:c.13del | XP_005274558.1:p.Val5CysfsTer6 | |
| NM_000216.4:c.13del MANE Select | NP_000207.2:p.Val5CysfsTer6 |