Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704569_42704584del , CM000668.2:g.42704569_42704584del | GRCh38 |
| NC_000006.11:g.42672307_42672322del , CM000668.1:g.42672307_42672322del | GRCh37 |
| NC_000006.10:g.42780285_42780300del | NCBI36 |
| NG_009176.1:g.23039_23054del | |
| NG_009176.2:g.23039_23054del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.611_626del MANE Select | ENSP00000230381.5:p.Tyr204SerfsTer? | |
| ENST00000230381.6:c.611_626del | ENSP00000230381.5:p.Tyr204SerfsTer? | |
| NM_000322.4:c.611_626del | NP_000313.2:p.Tyr204SerfsTer? | |
| XR_427834.2:n.1266_1281del | ||
| XR_926295.1:n.1448_1463del | ||
| XR_427834.4:n.1316_1331del | ||
| XR_926295.3:n.1498_1513del | ||
| NM_000322.5:c.611_626del MANE Select | NP_000313.2:p.Tyr204SerfsTer? |