HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293323_168293326del , CM000663.2:g.168293323_168293326del | GRCh38 |
NC_000001.10:g.168262561_168262564del , CM000663.1:g.168262561_168262564del | GRCh37 |
NC_000001.9:g.166529185_166529188del | NCBI36 |
NG_008244.1:g.17284_17287del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367821.8:c.603+45_603+48del MANE Select | ENSP00000356795.3:n.603+45_603+48del | |
ENST00000367821.7:c.603+45_603+48del | ENSP00000356795.3:n.603+45_603+48del | |
ENST00000431969.5:c.400+45_400+48del | ||
NM_005149.2:c.603+45_603+48del | NP_005140.1:n.603+45_603+48del | |
NM_005149.3:c.603+45_603+48del MANE Select | NP_005140.1:n.603+45_603+48del |