Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451508del , CM000665.2:g.52451508del | GRCh38 |
| NC_000003.11:g.52485524del , CM000665.1:g.52485524del | GRCh37 |
| NC_000003.10:g.52460564del | NCBI36 |
| NG_008963.1:g.7534del , LRG_378:g.7534del | |
| NG_033112.1:g.1001del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.337del MANE Select | NP_003271.1:p.Asp113ThrfsTer5 |
| ENST00000232975.8:c.337del MANE Select | ENSP00000232975.3:p.Asp113ThrfsTer5 |
| NM_003280.2:c.337del , LRG_378t1:c.337del | NP_003271.1:p.Asp113ThrfsTer5 |
| ENST00000232975.7:c.337del | ENSP00000232975.3:p.Asp113ThrfsTer5 |
| ENST00000461086.1:n.268del | |
| ENST00000496590.1:c.205del | ENSP00000420596.1:p.Asp69ThrfsTer5 |