Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94406421del , CM000669.2:g.94406421del | GRCh38 |
| NC_000007.13:g.94035733del , CM000669.1:g.94035733del | GRCh37 |
| NC_000007.12:g.93873669del | NCBI36 |
| NG_007405.1:g.16861del , LRG_2:g.16861del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.594+118del MANE Select | ENSP00000297268.6:n.594+118del | |
| ENST00000297268.10:c.594+118del | ENSP00000297268.6:n.594+118del | |
| ENST00000620463.1:c.588+118del | ENSP00000477719.1:n.588+118del | |
| NM_000089.3:c.594+118del , LRG_2t1:c.594+118del | NP_000080.2:n.594+118del | |
| NM_000089.4:c.594+118del MANE Select | NP_000080.2:n.594+118del |