Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007293_25007295del , CM000685.2:g.25007293_25007295del | GRCh38 |
| NC_000023.10:g.25025410_25025412del , CM000685.1:g.25025410_25025412del | GRCh37 |
| NC_000023.9:g.24935331_24935333del | NCBI36 |
| NG_008281.1:g.13658_13660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1268_1270del MANE Select | ENSP00000368332.4:p.His423del | |
| ENST00000379044.4:c.1268_1270del | ENSP00000368332.4:p.His423del | |
| NM_139058.2:c.1268_1270del | NP_620689.1:p.His423del | |
| NM_139058.3:c.1268_1270del MANE Select | NP_620689.1:p.His423del |