Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738152_115738154delinsTGG , CM000663.2:g.115738152_115738154delinsTGG | GRCh38 |
| NC_000001.10:g.116280773_116280775delinsTGG , CM000663.1:g.116280773_116280775delinsTGG | GRCh37 |
| NC_000001.9:g.116082296_116082298delinsTGG | NCBI36 |
| NG_008802.1:g.35652_35654delinsCCA , LRG_404:g.35652_35654delinsCCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.256+70_256+72delinsCCA | ENSP00000518226.1:n.256+70_256+72delinsCC... | |
| ENST00000261448.6:c.532+70_532+72delinsCCA MANE Select | ENSP00000261448.5:n.532+70_532+72delinsCC... | |
| ENST00000261448.5:c.532+70_532+72delinsCCA | ENSP00000261448.5:n.532+70_532+72delinsCC... | |
| NM_001232.3:c.532+70_532+72delinsCCA , LRG_404t1:c.532+70_532+72delinsCCA | NP_001223.2:n.532+70_532+72delinsCCA | |
| NM_001232.4:c.532+70_532+72delinsCCA MANE Select | NP_001223.2:n.532+70_532+72delinsCCA |