HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110582078_110582080del , CM000672.2:g.110582078_110582080del | GRCh38 |
NC_000010.10:g.112341836_112341838del , CM000672.1:g.112341836_112341838del | GRCh37 |
NC_000010.9:g.112331826_112331828del | NCBI36 |
NG_012217.1:g.19388_19390del , LRG_774:g.19388_19390del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684988.1:n.836_838del | ||
ENST00000687823.1:n.617_619del | ||
ENST00000689932.1:n.2766_2768del | ||
ENST00000691297.1:n.836_838del | ||
ENST00000691527.1:n.1506_1508del | ||
ENST00000692792.1:n.822_824del | ||
ENST00000361804.5:c.703_705del MANE Select | ENSP00000354720.5:p.Thr235del | |
ENST00000361804.4:c.703_705del | ENSP00000354720.4:p.Thr235del | |
NM_005445.3:c.703_705del , LRG_774t1:c.703_705del | NP_005436.1:p.Thr235del | |
NM_005445.4:c.703_705del MANE Select | NP_005436.1:p.Thr235del |