Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768383_115768384insA , CM000663.2:g.115768383_115768384insA | GRCh38 |
| NC_000001.10:g.116311004_116311005insA , CM000663.1:g.116311004_116311005insA | GRCh37 |
| NC_000001.9:g.116112527_116112528insA | NCBI36 |
| NG_008802.1:g.5422_5423insT , LRG_404:g.5422_5423insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-119_-118insT | ENSP00000518226.1:n.-119_-118insT | |
| ENST00000261448.6:c.158_159insT MANE Select | ENSP00000261448.5:p.Leu54ProfsTer5 | |
| ENST00000261448.5:c.158_159insT | ENSP00000261448.5:p.Leu54ProfsTer5 | |
| NM_001232.3:c.158_159insT , LRG_404t1:c.158_159insT | NP_001223.2:p.Leu54ProfsTer5 | |
| NM_001232.4:c.158_159insT MANE Select | NP_001223.2:p.Leu54ProfsTer5 |