Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1018172_1018174del , CM000673.2:g.1018172_1018174del | GRCh38 |
| NC_000011.9:g.1018172_1018174del , CM000673.1:g.1018172_1018174del | GRCh37 |
| NC_000011.8:g.1008172_1008174del | NCBI36 |
| NG_052845.1:g.23535_23537del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421673.7:c.4629_4631del MANE Select | ENSP00000406861.2:p.Thr1544del | |
| ENST00000421673.6:c.4629_4631del | ENSP00000406861.2:p.Thr1544del | |
| NM_005961.2:c.4629_4631del | NP_005952.2:p.Thr1544del | |
| NM_005961.3:c.4629_4631del MANE Select | NP_005952.2:p.Thr1544del |