Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251515_193251516insA , CM000663.2:g.193251515_193251516insA | GRCh38 |
| NC_000001.10:g.193220645_193220646insA , CM000663.1:g.193220645_193220646insA | GRCh37 |
| NC_000001.9:g.191487268_191487269insA | NCBI36 |
| NG_012691.1:g.134558_134559insA , LRG_507:g.134558_134559insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*803_*804insA MANE Select | ENSP00000356405.4:n.*803_*804insA | |
| ENST00000635846.1:c.*803_*804insA | ENSP00000490035.1:n.*803_*804insA | |
| ENST00000643006.1:c.*1309_*1310insA | ENSP00000496633.1:n.*1309_*1310insA | |
| ENST00000367435.3:c.*803_*804insA | ENSP00000356405.3:n.*803_*804insA | |
| NM_024529.4:c.*803_*804insA , LRG_507t1:c.*803_*804insA | NP_078805.3:n.*803_*804insA | |
| NM_024529.5:c.*803_*804insA MANE Select | NP_078805.3:n.*803_*804insA |