Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451507_52451523del , CM000665.2:g.52451507_52451523del | GRCh38 |
| NC_000003.11:g.52485523_52485539del , CM000665.1:g.52485523_52485539del | GRCh37 |
| NC_000003.10:g.52460563_52460579del | NCBI36 |
| NG_008963.1:g.7519_7535del , LRG_378:g.7519_7535del | |
| NG_033112.1:g.1000_1016del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.322_338del MANE Select | NP_003271.1:p.Ala108ProfsTer3 |
| ENST00000232975.8:c.322_338del MANE Select | ENSP00000232975.3:p.Ala108ProfsTer3 |
| NM_003280.2:c.322_338del , LRG_378t1:c.322_338del | NP_003271.1:p.Ala108ProfsTer3 |
| ENST00000232975.7:c.322_338del | ENSP00000232975.3:p.Ala108ProfsTer3 |
| ENST00000461086.1:n.253_269del | |
| ENST00000496590.1:c.190_206del | ENSP00000420596.1:p.Ala64ProfsTer3 |