Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29489894_29489911del , CM000684.2:g.29489894_29489911del | GRCh38 |
| NC_000022.10:g.29885883_29885900del , CM000684.1:g.29885883_29885900del | GRCh37 |
| NC_000022.9:g.28215883_28215900del | NCBI36 |
| NG_008404.1:g.14703_14720del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.2254_2271del MANE Select | NP_066554.2:p.Ser752_Lys757del |
| ENST00000310624.7:c.2254_2271del MANE Select | ENSP00000311997.6:p.Ser752_Lys757del |
| NM_021076.3:c.2254_2271del | NP_066554.2:p.Ser752_Lys757del |
| ENST00000310624.6:c.2254_2271del | ENSP00000311997.6:p.Ser752_Lys757del |
| XM_011530200.1:c.1966_1983del | XP_011528502.1:p.Ser656_Lys661del |
| XM_011530200.2:c.1966_1983del | XP_011528502.1:p.Ser656_Lys661del |