HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384284_12384288dup , CM000686.2:g.12384284_12384288dup | GRCh38 |
NC_000024.9:g.14496087_14496091dup , CM000686.1:g.14496087_14496091dup | GRCh37 |
NC_000024.8:g.13006095_13006099dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382965.3:n.317-5534_317-5530dup (GYG2P1) | ||
ENST00000689264.1:n.402-5534_402-5530dup (GYG2P1) | ||
ENST00000443820.2:n.1287-25_1287-21dup (ARSDP1) | ||
ENST00000651802.1:n.450+22101_450+22105dup (GYG2P1) | ||
ENST00000651835.1:n.319+22513_319+22517dup (GYG2P1) | ||
ENST00000382966.5:n.283+22513_283+22517dup (GYG2P1) | ||
ENST00000443820.1:n.735-25_735-21dup (ARSDP1) | ||
ENST00000493160.5:n.803-953_803-949dup (GYG2P1) | ||
XR_001756061.1:n.609-5534_609-5530dup |