Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283345_47283348del , CM000679.2:g.47283345_47283348del | GRCh38 |
| NC_000017.10:g.45360711_45360714del , CM000679.1:g.45360711_45360714del | GRCh37 |
| NC_000017.9:g.42715710_42715713del | NCBI36 |
| NG_008332.2:g.34504_34507del , LRG_481:g.34504_34507del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.166-9_166-6del | ENSP00000513002.1:n.166-9_166-6del | |
| ENST00000559488.7:c.166-9_166-6del MANE Select | ENSP00000452786.2:n.166-9_166-6del | |
| ENST00000559488.5:c.166-9_166-6del | ENSP00000452786.1:n.166-9_166-6del | |
| ENST00000560629.1:c.131-9_131-6del | ||
| ENST00000571680.1:c.166-9_166-6del | ENSP00000461626.1:n.166-9_166-6del | |
| NM_000212.2:c.166-9_166-6del , LRG_481t1:c.166-9_166-6del | NP_000203.2:n.166-9_166-6del | |
| NM_000212.3:c.166-9_166-6del MANE Select | NP_000203.2:n.166-9_166-6del |