Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480135_45480137delinsACT , CM000677.2:g.45480135_45480137delinsACT | GRCh38 |
| NC_000015.9:g.45772333_45772335delinsACT , CM000677.1:g.45772333_45772335delinsACT | GRCh37 |
| NC_000015.8:g.43559625_43559627delinsACT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.*5026_*5028delinsAGT MANE Select | ENSP00000261867.3:n.*5026_*5028delinsAGT | |
| ENST00000261867.4:c.*5026_*5028delinsAGT | ENSP00000261867.3:n.*5026_*5028delinsAGT | |
| NM_013309.5:c.*5026_*5028delinsAGT | NP_037441.2:n.*5026_*5028delinsAGT | |
| NM_013309.6:c.*5026_*5028delinsAGT MANE Select | NP_037441.2:n.*5026_*5028delinsAGT |