Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384627_12384628dup , CM000686.2:g.12384627_12384628dup | GRCh38 |
| NC_000024.9:g.14496422_14496423dup , CM000686.1:g.14496422_14496423dup | GRCh37 |
| NC_000024.8:g.13006430_13006431dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-5867_317-5866dup (GYG2P1) | ||
| ENST00000689264.1:n.402-5867_402-5866dup (GYG2P1) | ||
| ENST00000443820.2:n.1408+197_1408+198dup (ARSDP1) | ||
| ENST00000651802.1:n.450+21768_450+21769dup (GYG2P1) | ||
| ENST00000651835.1:n.319+22180_319+22181dup (GYG2P1) | ||
| ENST00000382966.5:n.283+22180_283+22181dup (GYG2P1) | ||
| ENST00000443820.1:n.856+197_856+198dup (ARSDP1) | ||
| ENST00000493160.5:n.803-1286_803-1285dup (GYG2P1) | ||
| XR_001756061.1:n.609-5867_609-5866dup |