Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529089_129529090delinsTG , CM000665.2:g.129529089_129529090delinsTG | GRCh38 |
| NC_000003.11:g.129247932_129247933delinsTG , CM000665.1:g.129247932_129247933delinsTG | GRCh37 |
| NC_000003.10:g.130730622_130730623delinsTG | NCBI36 |
| NG_009115.1:g.5451_5452delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.356_357delinsTG MANE Select | ENSP00000296271.3:p.Leu119= | |
| ENST00000296271.3:c.356_357delinsTG | ENSP00000296271.3:p.Leu119= | |
| NM_000539.3:c.356_357delinsTG MANE Select | NP_000530.1:p.Leu119= |