Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196483791_196483794del , CM000665.2:g.196483791_196483794del | GRCh38 |
| NC_000003.11:g.196210662_196210665del , CM000665.1:g.196210662_196210665del | GRCh37 |
| NC_000003.10:g.197695059_197695062del | NCBI36 |
| NG_023425.1:g.24978_24981del , LRG_185:g.24978_24981del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152617.4:c.659_662del MANE Select | NP_689830.2:p.Arg220ThrfsTer9 |
| ENST00000318037.3:c.659_662del MANE Select | ENSP00000320898.3:p.Arg220ThrfsTer9 |
| NM_152617.3:c.659_662del , LRG_185t1:c.659_662del | NP_689830.2:p.Arg220ThrfsTer9 |
| ENST00000437070.1:c.*231_*234del | ENSP00000396712.1:n.*231_*234del |
| XM_011512489.1:c.-161_-158del | XP_011510791.1:n.-161_-158del |