Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993081del , CM000685.2:g.154993081del | GRCh38 |
| NC_000023.10:g.154221356del , CM000685.1:g.154221356del | GRCh37 |
| NC_000023.9:g.153874550del | NCBI36 |
| NG_011403.1:g.34644del | |
| NG_011403.2:g.34644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.457del MANE Select | ENSP00000353393.4:p.His153IlefsTer8 | |
| ENST00000647125.1:c.*243del | ENSP00000496062.1:n.*243del | |
| ENST00000360256.8:c.457del | ENSP00000353393.4:p.His153IlefsTer8 | |
| ENST00000423959.5:c.352del | ENSP00000409446.1:p.His118IlefsTer8 | |
| ENST00000453950.1:c.439del | ENSP00000389153.1:p.His147IlefsTer8 | |
| NM_000132.3:c.457del | NP_000123.1:p.His153IlefsTer8 | |
| XM_011531126.1:c.352del | XP_011529428.1:p.His118IlefsTer8 | |
| NM_000132.4:c.457del MANE Select | NP_000123.1:p.His153IlefsTer8 |