Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665529del , CM000679.2:g.39665529del | GRCh38 |
| NC_000017.10:g.37821782del , CM000679.1:g.37821782del | GRCh37 |
| NC_000017.9:g.35075308del | NCBI36 |
| NG_008892.1:g.5184del , LRG_210:g.5184del | |
| NG_042278.1:g.2549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.110+60del MANE Select | ENSP00000312624.2:n.110+60del | |
| ENST00000309889.2:c.110+60del | ENSP00000312624.2:n.110+60del | |
| ENST00000578283.1:c.110+60del | ENSP00000462787.1:n.110+60del | |
| NM_003673.3:c.110+60del , LRG_210t1:c.110+60del | NP_003664.1:n.110+60del | |
| NM_003673.4:c.110+60del MANE Select | NP_003664.1:n.110+60del |