Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31826887_31826888del , CM000682.2:g.31826887_31826888del | GRCh38 |
| NC_000020.10:g.30414690_30414691del , CM000682.1:g.30414690_30414691del | GRCh37 |
| NC_000020.9:g.29878351_29878352del | NCBI36 |
| NG_012847.1:g.12513_12514del , LRG_392:g.12513_12514del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033118.4:c.1173_1174del MANE Select | NP_149109.1:p.Cys391Ter |
| ENST00000375985.5:c.1173_1174del MANE Select | ENSP00000365152.4:p.Cys391Ter |
| NM_033118.3:c.1173_1174del , LRG_392t1:c.1173_1174del | NP_149109.1:p.Cys391Ter |
| ENST00000375985.4:c.1173_1174del | ENSP00000365152.4:p.Cys391Ter |
| ENST00000375994.6:c.1173_1174del | ENSP00000365162.2:p.Cys391Ter |
| ENST00000468730.1:n.111_112del | |
| XR_244155.1:n.1824_1825del |