Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981779_48981780delinsTC , CM000674.2:g.48981779_48981780delinsTC | GRCh38 |
| NC_000012.11:g.49375562_49375563delinsTC , CM000674.1:g.49375562_49375563delinsTC | GRCh37 |
| NC_000012.10:g.47661829_47661830delinsTC | NCBI36 |
| NG_033141.1:g.8327_8328delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*139_*140delinsTC MANE Select | ENSP00000293549.3:n.*139_*140delinsTC | |
| NM_005430.3:c.*139_*140delinsTC | NP_005421.1:n.*139_*140delinsTC | |
| NM_005430.4:c.*139_*140delinsTC MANE Select | NP_005421.1:n.*139_*140delinsTC |