Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286567_44286569del , CM000683.2:g.44286567_44286569del | GRCh38 |
| NC_000021.8:g.45706450_45706452del , CM000683.1:g.45706450_45706452del | GRCh37 |
| NC_000021.7:g.44530878_44530880del | NCBI36 |
| NG_009556.1:g.5688_5690del , LRG_18:g.5688_5690del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.143_145del MANE Select | ENSP00000291582.5:p.His48del | |
| ENST00000291582.5:c.143_145del | ENSP00000291582.5:p.His48del | |
| ENST00000527919.5:n.304_306del | ||
| ENST00000530812.5:n.312_314del | ||
| NM_000383.3:c.143_145del | NP_000374.1:p.His48del | |
| XM_011529551.1:c.143_145del | XP_011527853.1:p.His48del | |
| NM_000383.4:c.143_145del MANE Select | NP_000374.1:p.His48del |