Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075692_8075694del , CM000679.2:g.8075692_8075694del | GRCh38 |
| NC_000017.10:g.7979010_7979012del , CM000679.1:g.7979010_7979012del | GRCh37 |
| NC_000017.9:g.7919735_7919737del | NCBI36 |
| NG_007099.1:g.17015_17017del | |
| NG_007099.2:g.17028_17030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1560_1562del MANE Select | ENSP00000497784.1:p.Tyr521del | |
| ENST00000649809.1:c.624_626del | ENSP00000496845.1:p.Tyr209del | |
| ENST00000319144.4:c.1560_1562del | ENSP00000315167.4:p.Tyr521del | |
| ENST00000577351.5:n.479+486_479+488del | ||
| NM_001139.2:c.1560_1562del | NP_001130.1:p.Tyr521del | |
| NM_001139.3:c.1560_1562del MANE Select | NP_001130.1:p.Tyr521del |