HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110573793del , CM000672.2:g.110573793del | GRCh38 |
NC_000010.10:g.112333551del , CM000672.1:g.112333551del | GRCh37 |
NC_000010.9:g.112323541del | NCBI36 |
NG_012217.1:g.11103del , LRG_774:g.11103del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.263+48del | ||
ENST00000687823.1:n.45-1543del | ||
ENST00000689932.1:n.651del | ||
ENST00000691297.1:n.263+48del | ||
ENST00000691527.1:n.220+48del | ||
ENST00000692792.1:n.249+48del | ||
ENST00000361804.5:c.130+48del MANE Select | ENSP00000354720.5:n.130+48del | |
ENST00000361804.4:c.130+48del | ENSP00000354720.4:n.130+48del | |
ENST00000462899.1:n.276+48del | ||
NM_005445.3:c.130+48del , LRG_774t1:c.130+48del | NP_005436.1:n.130+48del | |
NM_005445.4:c.130+48del MANE Select | NP_005436.1:n.130+48del |