Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46413826del , CM000663.2:g.46413826del | GRCh38 |
| NC_000001.10:g.46879498del , CM000663.1:g.46879498del | GRCh37 |
| NC_000001.9:g.46652085del | NCBI36 |
| NG_012195.1:g.24560del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.*251del MANE Select | ENSP00000243167.8:n.*251del | |
| ENST00000243167.8:c.*251del | ENSP00000243167.8:n.*251del | |
| ENST00000484697.5:c.1024del | ||
| NM_001441.2:c.*251del | NP_001432.2:n.*251del | |
| NM_001441.3:c.*251del MANE Select | NP_001432.2:n.*251del |