Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755166_74755167delinsCT , CM000677.2:g.74755166_74755167delinsCT | GRCh38 |
| NC_000015.9:g.75047507_75047508delinsCT , CM000677.1:g.75047507_75047508delinsCT | GRCh37 |
| NC_000015.8:g.72834560_72834561delinsCT | NCBI36 |
| NG_008431.1:g.37625_37626delinsCT | |
| NG_008431.2:g.37625_37626delinsCT | |
| NG_061543.1:g.11322_11323delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.*78_*79delinsCT MANE Select | ENSP00000342007.4:n.*78_*79delinsCT | |
| ENST00000343932.4:c.*78_*79delinsCT | ENSP00000342007.4:n.*78_*79delinsCT | |
| NM_000761.4:c.*78_*79delinsCT | NP_000752.2:n.*78_*79delinsCT | |
| NM_000761.5:c.*78_*79delinsCT MANE Select | NP_000752.2:n.*78_*79delinsCT |