Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941523_63941525del , CM000679.2:g.63941523_63941525del | GRCh38 |
| NC_000017.10:g.62018883_62018885del , CM000679.1:g.62018883_62018885del | GRCh37 |
| NC_000017.9:g.59372615_59372617del | NCBI36 |
| NG_011699.1:g.36396_36398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4759_4761del MANE Select | ENSP00000396320.1:p.Leu1587del | |
| ENST00000578147.5:c.4759_4761del | ENSP00000463963.1:p.Leu1587del | |
| NM_000334.4:c.4759_4761del MANE Select | NP_000325.4:p.Leu1587del | |
| XM_005257566.3:c.4759_4761del | XP_005257623.1:p.Leu1587del |