Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941915_63941930del , CM000679.2:g.63941915_63941930del | GRCh38 |
| NC_000017.10:g.62019275_62019290del , CM000679.1:g.62019275_62019290del | GRCh37 |
| NC_000017.9:g.59373007_59373022del | NCBI36 |
| NG_011699.1:g.35991_36006del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4354_4369del MANE Select | ENSP00000396320.1:p.Leu1452ValfsTer5 | |
| ENST00000578147.5:c.4354_4369del | ENSP00000463963.1:p.Leu1452ValfsTer5 | |
| NM_000334.4:c.4354_4369del MANE Select | NP_000325.4:p.Leu1452ValfsTer5 | |
| XM_005257566.3:c.4354_4369del | XP_005257623.1:p.Leu1452ValfsTer5 |