Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384523_12384538del , CM000686.2:g.12384523_12384538del | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-5761_317-5746del (GYG2P1) | ||
| ENST00000689264.1:n.402-5761_402-5746del (GYG2P1) | ||
| ENST00000443820.2:n.1408+93_1408+108del (ARSDP1) | ||
| ENST00000651802.1:n.450+21874_450+21889del (GYG2P1) | ||
| ENST00000651835.1:n.319+22286_319+22301del (GYG2P1) | ||
| ENST00000382966.5:n.283+22286_283+22301del (GYG2P1) | ||
| ENST00000443820.1:n.856+93_856+108del (ARSDP1) | ||
| ENST00000493160.5:n.803-1180_803-1165del (GYG2P1) | ||
| XR_001756061.1:n.609-5761_609-5746del |