Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184429_42184431del , CM000679.2:g.42184429_42184431del | GRCh38 |
| NC_000017.10:g.40336447_40336449del , CM000679.1:g.40336447_40336449del | GRCh37 |
| NC_000017.9:g.37589973_37589975del | NCBI36 |
| NG_011448.1:g.6025_6027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.122_124del MANE Select | ENSP00000293330.1:p.Arg41del | |
| NM_001524.1:c.122_124del MANE Select | NP_001515.1:p.Arg41del |