Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286622_44286626delinsGCTGA , CM000683.2:g.44286622_44286626delinsGCTGA | GRCh38 |
| NC_000021.8:g.45706505_45706509delinsGCTGA , CM000683.1:g.45706505_45706509delinsGCTGA | GRCh37 |
| NC_000021.7:g.44530933_44530937delinsGCTGA | NCBI36 |
| NG_009556.1:g.5743_5747delinsGCTGA , LRG_18:g.5743_5747delinsGCTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.198_202delinsGCTGA MANE Select | ENSP00000291582.5:p.Leu66= | |
| ENST00000291582.5:c.198_202delinsGCTGA | ENSP00000291582.5:p.Leu66= | |
| ENST00000527919.5:n.359_363delinsGCTGA | ||
| ENST00000530812.5:n.367_371delinsGCTGA | ||
| NM_000383.3:c.198_202delinsGCTGA | NP_000374.1:p.Leu66= | |
| XM_011529551.1:c.198_202delinsGCTGA | XP_011527853.1:p.Leu66= | |
| NM_000383.4:c.198_202delinsGCTGA MANE Select | NP_000374.1:p.Leu66= |