Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17054000_17054001del , CM000663.2:g.17054000_17054001del | GRCh38 |
| NC_000001.10:g.17380495_17380496del , CM000663.1:g.17380495_17380496del | GRCh37 |
| NC_000001.9:g.17253082_17253083del | NCBI36 |
| NG_012340.1:g.5173_5174del , LRG_316:g.5173_5174del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.22_23del MANE Select | NP_002991.2:p.Ser8LeufsTer? |
| ENST00000375499.8:c.22_23del MANE Select | ENSP00000364649.3:p.Ser8LeufsTer? |
| NM_003000.2:c.22_23del , LRG_316t1:c.22_23del | NP_002991.2:p.Ser8LeufsTer? |
| ENST00000375499.7:c.22_23del | ENSP00000364649.3:p.Ser8LeufsTer? |
| ENST00000466613.2:n.34_35del | |
| ENST00000485515.5:n.10_11del |