HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12379750dup , CM000686.2:g.12379750dup | GRCh38 |
NC_000024.9:g.14491553dup , CM000686.1:g.14491553dup | GRCh37 |
NC_000024.8:g.13001561dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382965.3:n.317-1001dup (GYG2P1) | ||
ENST00000689264.1:n.402-1001dup (GYG2P1) | ||
ENST00000443820.2:n.989+1928dup (ARSDP1) | ||
ENST00000651802.1:n.450+26634dup (GYG2P1) | ||
ENST00000651835.1:n.319+27046dup (GYG2P1) | ||
ENST00000382966.5:n.284-24979dup (GYG2P1) | ||
ENST00000443820.1:n.438-2586dup (ARSDP1) | ||
XR_001756061.1:n.609-1001dup |