Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738162_115738165del , CM000663.2:g.115738162_115738165del | GRCh38 |
| NC_000001.10:g.116280783_116280786del , CM000663.1:g.116280783_116280786del | GRCh37 |
| NC_000001.9:g.116082306_116082309del | NCBI36 |
| NG_008802.1:g.35642_35645del , LRG_404:g.35642_35645del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.256+60_256+63del | ENSP00000518226.1:n.256+60_256+63del | |
| ENST00000261448.6:c.532+60_532+63del MANE Select | ENSP00000261448.5:n.532+60_532+63del | |
| ENST00000261448.5:c.532+60_532+63del | ENSP00000261448.5:n.532+60_532+63del | |
| NM_001232.3:c.532+60_532+63del , LRG_404t1:c.532+60_532+63del | NP_001223.2:n.532+60_532+63del | |
| NM_001232.4:c.532+60_532+63del MANE Select | NP_001223.2:n.532+60_532+63del |