Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480145_45480146delinsAT , CM000677.2:g.45480145_45480146delinsAT | GRCh38 |
| NC_000015.9:g.45772343_45772344delinsAT , CM000677.1:g.45772343_45772344delinsAT | GRCh37 |
| NC_000015.8:g.43559635_43559636delinsAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.*5017_*5018delinsAT MANE Select | ENSP00000261867.3:n.*5017_*5018delinsAT | |
| ENST00000261867.4:c.*5017_*5018delinsAT | ENSP00000261867.3:n.*5017_*5018delinsAT | |
| NM_013309.5:c.*5017_*5018delinsAT | NP_037441.2:n.*5017_*5018delinsAT | |
| NM_013309.6:c.*5017_*5018delinsAT MANE Select | NP_037441.2:n.*5017_*5018delinsAT |