Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35099488_35102852del , CM000679.2:g.35099488_35102852del | GRCh38 |
| NC_000017.10:g.33426507_33429871del , CM000679.1:g.33426507_33429871del | GRCh37 |
| NC_000017.9:g.30450620_30453984del | NCBI36 |
| NG_031858.1:g.22018_25382del , LRG_516:g.22018_25382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.603+402_*1465del | ||
| ENST00000590016.6:c.798+402_*1465del | ||
| ENST00000345365.11:c.738+402_*1465del | ||
| ENST00000345365.10:c.738+402_*1465del | ||
| ENST00000591723.5:c.207+402_372+1713del | ||
| ENST00000592181.1:c.381+402_546+1713del | ||
| ENST00000593039.5:c.261+402_426+1713del | ||
| NR_037714.1:n.490+402_655+1713del | ||
| NM_001142571.2:c.798+402_*1465del | ||
| NM_133629.3:c.402+402_*1465del | ||
| NR_037711.2:n.764+402_2478del | ||
| NR_037712.2:n.629+402_2343del | ||
| NM_002878.4:c.738+402_*1465del |