Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593378_63593382del , CM000663.2:g.63593378_63593382del | GRCh38 |
| NC_000001.10:g.64059049_64059053del , CM000663.1:g.64059049_64059053del | GRCh37 |
| NC_000001.9:g.63831637_63831641del | NCBI36 |
| NG_016966.1:g.5103_5107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.7:c.-111_-107del (PGM1) | ENSP00000360125.3:n.-111_-107del | |
| ENST00000478138.1:n.197+144_197+148del (ITGB3BP) | ||
| NM_002633.2:c.-111_-107del (PGM1) | NP_002624.2:n.-111_-107del |