Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443601del , CM000682.2:g.33443601del | GRCh38 |
| NC_000020.10:g.32031407del , CM000682.1:g.32031407del | GRCh37 |
| NC_000020.9:g.31495068del | NCBI36 |
| NG_011622.1:g.5295del , LRG_332:g.5295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.23del MANE Select | ENSP00000217381.2:p.Pro8ArgfsTer26 | |
| ENST00000217381.2:c.23del | ENSP00000217381.2:p.Pro8ArgfsTer26 | |
| NM_003098.2:c.23del , LRG_332t1:c.23del | NP_003089.1:p.Pro8ArgfsTer26 | |
| XM_005260517.1:c.23del | XP_005260574.1:p.Pro8ArgfsTer26 | |
| XM_011529007.1:c.23del | XP_011527309.1:p.Pro8ArgfsTer26 | |
| XM_011529008.1:c.23del | XP_011527310.1:p.Pro8ArgfsTer26 | |
| XR_936612.1:n.256del | ||
| NM_003098.3:c.23del MANE Select | NP_003089.1:p.Pro8ArgfsTer26 |