Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8072817_8072819del , CM000679.2:g.8072817_8072819del | GRCh38 |
| NC_000017.10:g.7976135_7976137del , CM000679.1:g.7976135_7976137del | GRCh37 |
| NC_000017.9:g.7916860_7916862del | NCBI36 |
| NG_007099.1:g.19892_19894del | |
| NG_007099.2:g.19905_19907del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.2065_2067del MANE Select | NP_001130.1:p.Tyr689del |
| ENST00000647874.1:c.2065_2067del MANE Select | ENSP00000497784.1:p.Tyr689del |
| NM_001139.2:c.2065_2067del | NP_001130.1:p.Tyr689del |
| ENST00000319144.4:c.2065_2067del | ENSP00000315167.4:p.Tyr689del |
| ENST00000649809.1:c.1129_1131del | ENSP00000496845.1:p.Tyr377del |
| ENST00000650441.1:n.488_490del |