Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113667528_113667531del , CM000675.2:g.113667528_113667531del | GRCh38 |
| NC_000013.10:g.114321843_114321846del , CM000675.1:g.114321843_114321846del | GRCh37 |
| NC_000013.9:g.113369844_113369847del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002929.3:c.142_145del MANE Select | NP_002920.1:p.Glu48ProfsTer? |
| ENST00000335678.7:c.142_145del MANE Select | ENSP00000334876.5:p.Glu48ProfsTer? |
| NM_002929.2:c.142_145del | NP_002920.1:p.Glu48ProfsTer? |
| ENST00000335678.6:c.142_145del | ENSP00000334876.5:p.Glu48ProfsTer? |
| XM_017020684.1:c.-6-2159_-6-2156del | XP_016876173.1:n.-6-2159_-6-2156del |