Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652638_171652639del , CM000663.2:g.171652638_171652639del | GRCh38 |
| NC_000001.10:g.171621778_171621779del , CM000663.1:g.171621778_171621779del | GRCh37 |
| NC_000001.9:g.169888401_169888402del | NCBI36 |
| NG_008859.1:g.4995_4996del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-28_-27del MANE Select | ENSP00000037502.5:n.-28_-27del | |
| ENST00000037502.10:c.-28_-27del | ENSP00000037502.5:n.-28_-27del | |
| NM_000261.2:c.-28_-27del MANE Select | NP_000252.1:n.-28_-27del |