Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118520_44118521del , CM000682.2:g.44118520_44118521del | GRCh38 |
| NC_000020.10:g.42747160_42747161del , CM000682.1:g.42747160_42747161del | GRCh37 |
| NC_000020.9:g.42180574_42180575del | NCBI36 |
| NG_031867.1:g.74058_74059del , LRG_394:g.74058_74059del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1272_1273del MANE Select | ENSP00000362071.3:p.Asp425LeufsTer? | |
| ENST00000372980.3:c.1272_1273del | ENSP00000362071.3:p.Asp425LeufsTer? | |
| NM_020433.4:c.1272_1273del , LRG_394t1:c.1272_1273del | NP_065166.2:p.Asp425LeufsTer? | |
| XM_006723832.2:c.1272_1273del | XP_006723895.1:p.Asp425LeufsTer? | |
| NM_020433.5:c.1272_1273del MANE Select | NP_065166.2:p.Asp425LeufsTer? |