Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251605_193251606del , CM000663.2:g.193251605_193251606del | GRCh38 |
| NC_000001.10:g.193220735_193220736del , CM000663.1:g.193220735_193220736del | GRCh37 |
| NC_000001.9:g.191487358_191487359del | NCBI36 |
| NG_012691.1:g.134648_134649del , LRG_507:g.134648_134649del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*893_*894del MANE Select | ENSP00000356405.4:n.*893_*894del | |
| ENST00000635846.1:c.*893_*894del | ENSP00000490035.1:n.*893_*894del | |
| ENST00000643006.1:c.*1399_*1400del | ENSP00000496633.1:n.*1399_*1400del | |
| ENST00000367435.3:c.*893_*894del | ENSP00000356405.3:n.*893_*894del | |
| NM_024529.4:c.*893_*894del , LRG_507t1:c.*893_*894del | NP_078805.3:n.*893_*894del | |
| NM_024529.5:c.*893_*894del MANE Select | NP_078805.3:n.*893_*894del |