HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384627_12384628del , CM000686.2:g.12384627_12384628del | GRCh38 |
NC_000024.9:g.14496422_14496423del , CM000686.1:g.14496422_14496423del | GRCh37 |
NC_000024.8:g.13006430_13006431del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-5867_317-5866del (GYG2P1) | ||
ENST00000689264.1:n.402-5867_402-5866del (GYG2P1) | ||
ENST00000443820.2:n.1408+197_1408+198del (ARSDP1) | ||
ENST00000651802.1:n.450+21768_450+21769del (GYG2P1) | ||
ENST00000651835.1:n.319+22180_319+22181del (GYG2P1) | ||
ENST00000382966.5:n.283+22180_283+22181del (GYG2P1) | ||
ENST00000443820.1:n.856+197_856+198del (ARSDP1) | ||
ENST00000493160.5:n.803-1286_803-1285del (GYG2P1) | ||
XR_001756061.1:n.609-5867_609-5866del |