Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624485del , CM000670.2:g.64624485del | GRCh38 |
| NC_000008.10:g.65537042del , CM000670.1:g.65537042del | GRCh37 |
| NC_000008.9:g.65699596del | NCBI36 |
| NG_008338.1:g.179308del | |
| NG_008338.2:g.179308del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.178del MANE Select | ENSP00000310721.3:p.Leu60Ter | |
| ENST00000310193.3:c.178del | ENSP00000310721.3:p.Leu60Ter | |
| NM_004820.3:c.178del | NP_004811.1:p.Leu60Ter | |
| NM_001324112.1:c.178del | NP_001311041.1:p.Leu60Ter | |
| NM_004820.4:c.178del | NP_004811.1:p.Leu60Ter | |
| XM_017014002.1:c.244del | XP_016869491.1:p.Leu82Ter | |
| NM_004820.5:c.178del MANE Select | NP_004811.1:p.Leu60Ter | |
| NM_001324112.2:c.178del | NP_001311041.1:p.Leu60Ter |