Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738155_115738156del , CM000663.2:g.115738155_115738156del | GRCh38 |
| NC_000001.10:g.116280776_116280777del , CM000663.1:g.116280776_116280777del | GRCh37 |
| NC_000001.9:g.116082299_116082300del | NCBI36 |
| NG_008802.1:g.35652_35653del , LRG_404:g.35652_35653del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.256+70_256+71del | ENSP00000518226.1:n.256+70_256+71del | |
| ENST00000261448.6:c.532+70_532+71del MANE Select | ENSP00000261448.5:n.532+70_532+71del | |
| ENST00000261448.5:c.532+70_532+71del | ENSP00000261448.5:n.532+70_532+71del | |
| NM_001232.3:c.532+70_532+71del , LRG_404t1:c.532+70_532+71del | NP_001223.2:n.532+70_532+71del | |
| NM_001232.4:c.532+70_532+71del MANE Select | NP_001223.2:n.532+70_532+71del |