Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652675_171652676del , CM000663.2:g.171652675_171652676del | GRCh38 |
| NC_000001.10:g.171621815_171621816del , CM000663.1:g.171621815_171621816del | GRCh37 |
| NC_000001.9:g.169888438_169888439del | NCBI36 |
| NG_008859.1:g.4958_4959del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-65_-64del MANE Select | ENSP00000037502.5:n.-65_-64del | |
| ENST00000037502.10:c.-65_-64del | ENSP00000037502.5:n.-65_-64del | |
| NM_000261.2:c.-65_-64del MANE Select | NP_000252.1:n.-65_-64del |