Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719135_92719137del , CM000671.2:g.92719135_92719137del | GRCh38 |
| NC_000009.11:g.95481417_95481419del , CM000671.1:g.95481417_95481419del | GRCh37 |
| NC_000009.10:g.94521238_94521240del | NCBI36 |
| NG_033908.1:g.50667_50669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1510_1512del MANE Select | ENSP00000349351.6:p.Lys504del | |
| ENST00000356884.10:c.1510_1512del | ENSP00000349351.6:p.Lys504del | |
| ENST00000375512.3:c.1510_1512del | ENSP00000364662.3:p.Lys504del | |
| NM_001003800.1:c.1510_1512del | NP_001003800.1:p.Lys504del | |
| NM_015250.3:c.1510_1512del | NP_056065.1:p.Lys504del | |
| XM_017014551.1:c.1591_1593del | XP_016870040.1:p.Lys531del | |
| NM_001003800.2:c.1510_1512del MANE Select | NP_001003800.1:p.Lys504del | |
| NM_015250.4:c.1510_1512del | NP_056065.1:p.Lys504del |