Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123902_72123910del , CM000679.2:g.72123902_72123910del | GRCh38 |
| NC_000017.10:g.70120043_70120051del , CM000679.1:g.70120043_70120051del | GRCh37 |
| NC_000017.9:g.67631638_67631646del | NCBI36 |
| NG_012490.1:g.7883_7891del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1045_1053del MANE Select | ENSP00000245479.2:p.Pro349_Gln351del | |
| ENST00000245479.2:c.1045_1053del | ENSP00000245479.2:p.Pro349_Gln351del | |
| NM_000346.3:c.1045_1053del | NP_000337.1:p.Pro349_Gln351del | |
| NM_000346.4:c.1045_1053del MANE Select | NP_000337.1:p.Pro349_Gln351del |