HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384527_12384538dup , CM000686.2:g.12384527_12384538dup | GRCh38 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-5757_317-5746dup (GYG2P1) | ||
ENST00000689264.1:n.402-5757_402-5746dup (GYG2P1) | ||
ENST00000443820.2:n.1408+97_1408+108dup (ARSDP1) | ||
ENST00000651802.1:n.450+21878_450+21889dup (GYG2P1) | ||
ENST00000651835.1:n.319+22290_319+22301dup (GYG2P1) | ||
ENST00000382966.5:n.283+22290_283+22301dup (GYG2P1) | ||
ENST00000443820.1:n.856+97_856+108dup (ARSDP1) | ||
ENST00000493160.5:n.803-1176_803-1165dup (GYG2P1) | ||
XR_001756061.1:n.609-5757_609-5746dup |