Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38409002del , CM000685.2:g.38409002del | GRCh38 |
| NC_000023.10:g.38268255del , CM000685.1:g.38268255del | GRCh37 |
| NC_000023.9:g.38153199del | NCBI36 |
| NG_008471.1:g.61520del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.844del MANE Select | ENSP00000039007.4:p.Gln282LysfsTer7 | |
| ENST00000643344.1:c.*594del | ENSP00000496606.1:n.*594del | |
| ENST00000039007.4:c.844del | ENSP00000039007.4:p.Gln282LysfsTer7 | |
| ENST00000465127.1:c.172-257119del | ENSP00000417050.1:n.172-257119del | |
| NM_000531.5:c.844del | NP_000522.3:p.Gln282LysfsTer7 | |
| XM_017029556.1:c.844del | XP_016885045.1:p.Gln282LysfsTer7 | |
| NM_000531.6:c.844del MANE Select | NP_000522.3:p.Gln282LysfsTer7 |