Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442357del , CM000666.2:g.73442357del | GRCh38 |
| NC_000004.11:g.74308074del , CM000666.1:g.74308074del | GRCh37 |
| NC_000004.10:g.74526938del | NCBI36 |
| NG_023028.1:g.11142del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.544del MANE Select | ENSP00000379138.2:p.Ala182LeufsTer7 | |
| ENST00000226359.2:c.544del | ENSP00000226359.2:p.Ala182LeufsTer7 | |
| ENST00000395792.6:c.544del | ENSP00000379138.2:p.Ala182LeufsTer7 | |
| NM_001134.2:c.544del | NP_001125.1:p.Ala182LeufsTer7 | |
| XM_011531704.1:c.541del | XP_011530006.1:p.Ala181LeufsTer7 | |
| NM_001354717.1:c.70del | NP_001341646.1:p.Ala24LeufsTer7 | |
| NM_001134.3:c.544del MANE Select | NP_001125.1:p.Ala182LeufsTer7 | |
| NM_001354717.2:c.70del | NP_001341646.2:p.Ala24LeufsTer7 |