Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370634_34370639del , CM000683.2:g.34370634_34370639del | GRCh38 |
| NC_000021.8:g.35742933_35742938del , CM000683.1:g.35742933_35742938del | GRCh37 |
| NC_000021.7:g.34664803_34664808del | NCBI36 |
| NG_008804.1:g.11611_11616del , LRG_291:g.11611_11616del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.156_161del MANE Select | ENSP00000290310.2:p.Tyr52Ter | |
| ENST00000290310.3:c.156_161del | ENSP00000290310.2:p.Tyr52Ter | |
| NM_172201.1:c.156_161del , LRG_291t1:c.156_161del | NP_751951.1:p.Tyr52Ter | |
| XR_937683.1:n.682_687del | ||
| XR_937684.1:n.682_687del | ||
| XR_001755012.2:n.803_808del | ||
| XR_001755013.2:n.682_687del | ||
| XR_937683.2:n.682_687del | ||
| NM_172201.2:c.156_161del MANE Select | NP_751951.1:p.Tyr52Ter |