Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251484_193251487del , CM000663.2:g.193251484_193251487del | GRCh38 |
| NC_000001.10:g.193220614_193220617del , CM000663.1:g.193220614_193220617del | GRCh37 |
| NC_000001.9:g.191487237_191487240del | NCBI36 |
| NG_012691.1:g.134527_134530del , LRG_507:g.134527_134530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*772_*775del MANE Select | ENSP00000356405.4:n.*772_*775del | |
| ENST00000635846.1:c.*772_*775del | ENSP00000490035.1:n.*772_*775del | |
| ENST00000643006.1:c.*1278_*1281del | ENSP00000496633.1:n.*1278_*1281del | |
| ENST00000367435.3:c.*772_*775del | ENSP00000356405.3:n.*772_*775del | |
| NM_024529.4:c.*772_*775del , LRG_507t1:c.*772_*775del | NP_078805.3:n.*772_*775del | |
| NM_024529.5:c.*772_*775del MANE Select | NP_078805.3:n.*772_*775del |