Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820031del , CM000682.2:g.31820031del | GRCh38 |
| NC_000020.10:g.30407834del , CM000682.1:g.30407834del | GRCh37 |
| NC_000020.9:g.29871495del | NCBI36 |
| NG_012847.1:g.5657del , LRG_392:g.5657del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.53-95del MANE Select | ENSP00000365152.4:n.53-95del | |
| ENST00000375985.4:c.53-95del | ENSP00000365152.4:n.53-95del | |
| ENST00000375994.6:c.53-95del | ENSP00000365162.2:n.53-95del | |
| NM_033118.3:c.53-95del , LRG_392t1:c.53-95del | NP_149109.1:n.53-95del | |
| XR_244155.1:n.218-95del | ||
| NM_033118.4:c.53-95del MANE Select | NP_149109.1:n.53-95del |