Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965789_37965790del , CM000670.2:g.37965789_37965790del | GRCh38 |
| NC_000008.10:g.37823307_37823308del , CM000670.1:g.37823307_37823308del | GRCh37 |
| NC_000008.9:g.37942464_37942465del | NCBI36 |
| NG_011936.1:g.5879_5880del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.682_683del MANE Select | NP_000016.1:p.Phe228ArgfsTer? |
| ENST00000345060.5:c.682_683del MANE Select | ENSP00000343782.3:p.Phe228ArgfsTer? |
| NM_000025.2:c.682_683del | NP_000016.1:p.Phe228ArgfsTer? |
| ENST00000345060.4:c.682_683del | ENSP00000343782.3:p.Phe228ArgfsTer? |
| ENST00000520341.2:n.810_811del | |
| ENST00000614635.1:c.682_683del | ENSP00000480325.1:p.Phe228ArgfsTer? |
| ENST00000647937.1:c.166_167del | ENSP00000497740.1:p.Phe56ArgfsTer? |