Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384542_12384545del , CM000686.2:g.12384542_12384545del | GRCh38 |
| NC_000024.9:g.14496337_14496340del , CM000686.1:g.14496337_14496340del | GRCh37 |
| NC_000024.8:g.13006345_13006348del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-5791_317-5788del (GYG2P1) | ||
| ENST00000689264.1:n.402-5791_402-5788del (GYG2P1) | ||
| ENST00000443820.2:n.1408+112_1408+115del (ARSDP1) | ||
| ENST00000651802.1:n.450+21844_450+21847del (GYG2P1) | ||
| ENST00000651835.1:n.319+22256_319+22259del (GYG2P1) | ||
| ENST00000382966.5:n.283+22256_283+22259del (GYG2P1) | ||
| ENST00000443820.1:n.856+112_856+115del (ARSDP1) | ||
| ENST00000493160.5:n.803-1210_803-1207del (GYG2P1) | ||
| XR_001756061.1:n.609-5791_609-5788del |