Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337467del , CM000673.2:g.47337467del | GRCh38 |
| NC_000011.9:g.47359018del , CM000673.1:g.47359018del | GRCh37 |
| NC_000011.8:g.47315594del | NCBI36 |
| NG_007667.1:g.20236del , LRG_386:g.20236del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2526del MANE Select | ENSP00000442795.1:p.Tyr842Ter | |
| ENST00000256993.8:c.2526del | ENSP00000256993.5:p.Tyr842Ter | |
| ENST00000399249.6:c.2526del | ENSP00000382193.2:p.Tyr842Ter | |
| ENST00000544791.1:c.*31del | ENSP00000444259.1:n.*31del | |
| ENST00000545968.5:c.2526del | ENSP00000442795.1:p.Tyr842Ter | |
| NM_000256.3:c.2526del , LRG_386t1:c.2526del MANE Select | NP_000247.2:p.Tyr842Ter | |
| XM_011520117.1:c.2508del | XP_011518419.1:p.Tyr836Ter | |
| XM_011520118.1:c.2445del | XP_011518420.1:p.Tyr815Ter |