Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218434_99218435delinsAA , CM000671.2:g.99218434_99218435delinsAA | GRCh38 |
| NC_000009.11:g.101980716_101980717delinsAA , CM000671.1:g.101980716_101980717delinsAA | GRCh37 |
| NC_000009.10:g.101020537_101020538delinsAA | NCBI36 |
| NG_008928.1:g.8530_8531delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.750_751delinsTT MANE Select | NP_149078.1:p.Arg251Cys |
| ENST00000476832.2:c.750_751delinsTT MANE Select | ENSP00000417764.1:p.Arg251Cys |
| NM_033087.3:c.750_751delinsTT | NP_149078.1:p.Arg251Cys |
| NR_024532.1:n.979_980delinsTT | |
| NR_024532.2:n.957_958delinsTT | |
| ENST00000238477.5:c.*492_*493delinsTT | ENSP00000432675.2:n.*492_*493delinsTT |
| ENST00000319033.7:c.471_472delinsTT | ENSP00000326609.6:p.Arg158Cys |
| ENST00000476832.1:c.750_751delinsTT | ENSP00000417764.1:p.Arg251Cys |