Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47331990del , CM000673.2:g.47331990del | GRCh38 |
| NC_000011.9:g.47353541del , CM000673.1:g.47353541del | GRCh37 |
| NC_000011.8:g.47310117del | NCBI36 |
| NG_007667.1:g.25713del , LRG_386:g.25713del | |
| NG_029462.1:g.67615del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3814+82del MANE Select | ENSP00000442795.1:n.3814+82del | |
| ENST00000256993.8:c.3814+82del | ENSP00000256993.5:n.3814+82del | |
| ENST00000399249.6:c.3814+82del | ENSP00000382193.2:n.3814+82del | |
| ENST00000545968.5:c.3814+82del | ENSP00000442795.1:n.3814+82del | |
| NM_000256.3:c.3814+82del , LRG_386t1:c.3814+82del MANE Select | NP_000247.2:n.3814+82del | |
| XM_011520117.1:c.3796+82del | XP_011518419.1:n.3796+82del | |
| XM_011520118.1:c.3733+82del | XP_011518420.1:n.3733+82del |