Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738160_115738164delinsCCTGA , CM000663.2:g.115738160_115738164delinsCCTGA | GRCh38 |
| NC_000001.10:g.116280781_116280785delinsCCTGA , CM000663.1:g.116280781_116280785delinsCCTGA | GRCh37 |
| NC_000001.9:g.116082304_116082308delinsCCTGA | NCBI36 |
| NG_008802.1:g.35642_35646delinsTCAGG , LRG_404:g.35642_35646delinsTCAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.256+60_256+64delinsTCAGG | ENSP00000518226.1:n.256+60_256+64delinsTC... | |
| ENST00000261448.6:c.532+60_532+64delinsTCAGG MANE Select | ENSP00000261448.5:n.532+60_532+64delinsTC... | |
| ENST00000261448.5:c.532+60_532+64delinsTCAGG | ENSP00000261448.5:n.532+60_532+64delinsTC... | |
| NM_001232.3:c.532+60_532+64delinsTCAGG , LRG_404t1:c.532+60_532+64delinsTCAGG | NP_001223.2:n.532+60_532+64delinsTCAGG | |
| NM_001232.4:c.532+60_532+64delinsTCAGG MANE Select | NP_001223.2:n.532+60_532+64delinsTCAGG |