Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231382del , CM000672.2:g.68231382del | GRCh38 |
| NC_000010.10:g.69991139del , CM000672.1:g.69991139del | GRCh37 |
| NC_000010.9:g.69661145del | NCBI36 |
| NG_031934.1:g.5733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.297del MANE Select | ENSP00000362777.3:p.Glu100SerfsTer? | |
| ENST00000373673.4:c.297del | ENSP00000362777.3:p.Glu100SerfsTer? | |
| NM_145178.3:c.297del | NP_660161.1:p.Glu100SerfsTer? | |
| NM_145178.4:c.297del MANE Select | NP_660161.1:p.Glu100SerfsTer? |