Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083173del , CM000682.2:g.3083173del | GRCh38 |
| NC_000020.10:g.3063819del , CM000682.1:g.3063819del | GRCh37 |
| NC_000020.9:g.3011819del | NCBI36 |
| NG_008663.1:g.6555del , LRG_715:g.6555del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.129del MANE Select | ENSP00000369647.3:p.Cys44AlafsTer? | |
| NM_000490.4:c.129del , LRG_715t1:c.129del | NP_000481.2:p.Cys44AlafsTer? | |
| XM_011529267.1:c.129del | XP_011527569.1:p.Cys44AlafsTer? | |
| XM_011529267.2:c.129del | XP_011527569.1:p.Cys44AlafsTer? | |
| NM_000490.5:c.129del MANE Select | NP_000481.2:p.Cys44AlafsTer? |