Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90920223del , CM000672.2:g.90920223del | GRCh38 |
| NC_000010.10:g.92679980del , CM000672.1:g.92679980del | GRCh37 |
| NC_000010.9:g.92669960del | NCBI36 |
| NG_023227.1:g.6055del , LRG_379:g.6055del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014391.3:c.155del MANE Select | NP_055206.2:p.Pro52LeufsTer2 |
| ENST00000371697.4:c.155del MANE Select | ENSP00000360762.3:p.Pro52LeufsTer2 |
| NM_014391.2:c.155del , LRG_379t1:c.155del | NP_055206.2:p.Pro52LeufsTer2 |
| ENST00000371697.3:c.155del | ENSP00000360762.3:p.Pro52LeufsTer2 |