Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044282del , CM000672.2:g.114044282del | GRCh38 |
| NC_000010.10:g.115804041del , CM000672.1:g.115804041del | GRCh37 |
| NC_000010.9:g.115794031del | NCBI36 |
| NG_012187.1:g.5236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.150del MANE Select | ENSP00000358301.2:p.Glu51SerfsTer14 | |
| ENST00000369295.3:c.150del | ENSP00000358301.2:p.Glu51SerfsTer14 | |
| NM_000684.2:c.150del | NP_000675.1:p.Glu51SerfsTer14 | |
| NM_000684.3:c.150del MANE Select | NP_000675.1:p.Glu51SerfsTer14 |