Linked Data
dbSNP Id:
rs41352448
gnomAD v3:
Y-12384494-G-GTGGATGGA
gnomAD v4:
Y-12384494-G-GTGGATGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384531_12384538dup , CM000686.2:g.12384531_12384538dup | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-5753_317-5746dup (GYG2P1) | ||
| ENST00000689264.1:n.402-5753_402-5746dup (GYG2P1) | ||
| ENST00000443820.2:n.1408+101_1408+108dup (ARSDP1) | ||
| ENST00000651802.1:n.450+21882_450+21889dup (GYG2P1) | ||
| ENST00000651835.1:n.319+22294_319+22301dup (GYG2P1) | ||
| ENST00000382966.5:n.283+22294_283+22301dup (GYG2P1) | ||
| ENST00000443820.1:n.856+101_856+108dup (ARSDP1) | ||
| ENST00000493160.5:n.803-1172_803-1165dup (GYG2P1) | ||
| XR_001756061.1:n.609-5753_609-5746dup |