Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48534143del , CM000677.2:g.48534143del | GRCh38 |
| NC_000015.9:g.48826340del , CM000677.1:g.48826340del | GRCh37 |
| NC_000015.8:g.46613632del | NCBI36 |
| NG_008805.2:g.116648del , LRG_778:g.116648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.801del | ENSP00000453958.2:p.Ser268LeufsTer? | |
| ENST00000674301.2:c.801del | ENSP00000501333.2:p.Ser268LeufsTer? | |
| ENST00000316623.10:c.801del MANE Select | ENSP00000325527.5:p.Ser268LeufsTer? | |
| ENST00000316623.9:c.801del | ENSP00000325527.5:p.Ser268LeufsTer? | |
| ENST00000537463.6:c.636+3570del | ENSP00000440294.2:n.636+3570del | |
| NM_000138.4:c.801del , LRG_778t1:c.801del | NP_000129.3:p.Ser268LeufsTer? | |
| NM_000138.5:c.801del MANE Select | NP_000129.3:p.Ser268LeufsTer? |