Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384539_12384540delinsCA , CM000686.2:g.12384539_12384540delinsCA | GRCh38 |
| NC_000024.9:g.14496334_14496335delinsCA , CM000686.1:g.14496334_14496335delinsCA | GRCh37 |
| NC_000024.8:g.13006342_13006343delinsCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-5791_317-5790delinsTG (GYG2P1) | ||
| ENST00000689264.1:n.402-5791_402-5790delinsTG (GYG2P1) | ||
| ENST00000443820.2:n.1408+109_1408+110delinsCA (ARSDP1) | ||
| ENST00000651802.1:n.450+21844_450+21845delinsTG (GYG2P1) | ||
| ENST00000651835.1:n.319+22256_319+22257delinsTG (GYG2P1) | ||
| ENST00000382966.5:n.283+22256_283+22257delinsTG (GYG2P1) | ||
| ENST00000443820.1:n.856+109_856+110delinsCA (ARSDP1) | ||
| ENST00000493160.5:n.803-1210_803-1209delinsTG (GYG2P1) | ||
| XR_001756061.1:n.609-5791_609-5790delinsTG |