Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082652_3082670del , CM000682.2:g.3082652_3082670del | GRCh38 |
| NC_000020.10:g.3063298_3063316del , CM000682.1:g.3063298_3063316del | GRCh37 |
| NC_000020.9:g.3011298_3011316del | NCBI36 |
| NG_008663.1:g.7060_7078del , LRG_715:g.7060_7078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.460_478del MANE Select | ENSP00000369647.3:p.Glu154SerfsTer? | |
| NM_000490.4:c.460_478del , LRG_715t1:c.460_478del | NP_000481.2:p.Glu154SerfsTer? | |
| XM_011529267.1:c.460_478del | XP_011527569.1:p.Glu154SerfsTer? | |
| XM_011529267.2:c.460_478del | XP_011527569.1:p.Glu154SerfsTer? | |
| NM_000490.5:c.460_478del MANE Select | NP_000481.2:p.Glu154SerfsTer? |