Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40932049_40932062del , CM000677.2:g.40932049_40932062del | GRCh38 |
| NC_000015.9:g.41224247_41224260del , CM000677.1:g.41224247_41224260del | GRCh37 |
| NC_000015.8:g.39011539_39011552del | NCBI36 |
| NG_046974.1:g.7717_7730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.659-122_659-109del MANE Select | ENSP00000249749.5:n.659-122_659-109del | |
| ENST00000249749.6:c.659-122_659-109del | ENSP00000249749.5:n.659-122_659-109del | |
| ENST00000559440.1:n.888-122_888-109del | ||
| NM_019074.3:c.659-122_659-109del | NP_061947.1:n.659-122_659-109del | |
| NM_019074.4:c.659-122_659-109del MANE Select | NP_061947.1:n.659-122_659-109del |