Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749613_74749614delinsAT , CM000677.2:g.74749613_74749614delinsAT | GRCh38 |
| NC_000015.9:g.75041954_75041955delinsAT , CM000677.1:g.75041954_75041955delinsAT | GRCh37 |
| NC_000015.8:g.72829007_72829008delinsAT | NCBI36 |
| NG_008431.1:g.32072_32073delinsAT | |
| NG_008431.2:g.32072_32073delinsAT | |
| NG_061543.1:g.5769_5770delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.-9-117_-9-116delinsAT MANE Select | ENSP00000342007.4:n.-9-117_-9-116delinsAT... | |
| ENST00000343932.4:c.-9-117_-9-116delinsAT | ENSP00000342007.4:n.-9-117_-9-116delinsAT... | |
| NM_000761.4:c.-9-117_-9-116delinsAT | NP_000752.2:n.-9-117_-9-116delinsAT | |
| NM_000761.5:c.-9-117_-9-116delinsAT MANE Select | NP_000752.2:n.-9-117_-9-116delinsAT |