Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123937_72123957del , CM000679.2:g.72123937_72123957del | GRCh38 |
| NC_000017.10:g.70120078_70120098del , CM000679.1:g.70120078_70120098del | GRCh37 |
| NC_000017.9:g.67631673_67631693del | NCBI36 |
| NG_012490.1:g.7918_7938del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000346.4:c.1080_1100del MANE Select | NP_000337.1:p.Gln361_Pro367del |
| ENST00000245479.3:c.1080_1100del MANE Select | ENSP00000245479.2:p.Gln361_Pro367del |
| NM_000346.3:c.1080_1100del | NP_000337.1:p.Gln361_Pro367del |
| ENST00000245479.2:c.1080_1100del | ENSP00000245479.2:p.Gln361_Pro367del |