Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114685_140114686delinsTT , CM000667.2:g.140114685_140114686delinsTT | GRCh38 |
| NC_000005.9:g.139494270_139494271delinsTT , CM000667.1:g.139494270_139494271delinsTT | GRCh37 |
| NC_000005.8:g.139474454_139474455delinsTT | NCBI36 |
| NG_041813.1:g.5563_5564delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.504_505delinsTT MANE Select | ENSP00000332706.3:p.Arg169Cys | |
| ENST00000651386.1:c.504_505delinsTT | ENSP00000499133.1:p.Arg169Cys | |
| ENST00000331327.4:c.504_505delinsTT | ENSP00000332706.3:p.Arg169Cys | |
| NM_005859.4:c.504_505delinsTT | NP_005850.1:p.Arg169Cys | |
| NM_005859.5:c.504_505delinsTT MANE Select | NP_005850.1:p.Arg169Cys |