Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471384_40471386del , CM000677.2:g.40471384_40471386del | GRCh38 |
| NC_000015.9:g.40763583_40763585del , CM000677.1:g.40763583_40763585del | GRCh37 |
| NC_000015.8:g.38550875_38550877del | NCBI36 |
| NG_017074.1:g.5424_5426del , LRG_600:g.5424_5426del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.171_173del MANE Select | ENSP00000307297.6:p.Leu58del | |
| ENST00000306243.6:c.171_173del | ENSP00000307297.5:p.Leu58del | |
| ENST00000559991.1:c.171_173del | ENSP00000453882.1:p.Leu58del | |
| NM_130468.3:c.171_173del , LRG_600t1:c.171_173del | NP_569735.1:p.Leu58del | |
| NM_130468.4:c.171_173del MANE Select | NP_569735.1:p.Leu58del |