Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480169del , CM000677.2:g.45480169del | GRCh38 |
| NC_000015.9:g.45772367del , CM000677.1:g.45772367del | GRCh37 |
| NC_000015.8:g.43559659del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261867.5:c.*4996del MANE Select | ENSP00000261867.3:n.*4996del | |
| ENST00000261867.4:c.*4996del | ENSP00000261867.3:n.*4996del | |
| NM_013309.5:c.*4996del | NP_037441.2:n.*4996del | |
| NM_013309.6:c.*4996del MANE Select | NP_037441.2:n.*4996del |