HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063714del , CM000663.2:g.55063714del | GRCh38 |
NC_000001.10:g.55529387del , CM000663.1:g.55529387del | GRCh37 |
NC_000001.9:g.55301975del | NCBI36 |
NG_009061.1:g.29168del , LRG_275:g.29168del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*549del | ENSP00000501161.2:n.*549del | |
ENST00000710286.1:c.*130del | ENSP00000518176.1:n.*130del | |
ENST00000673903.1:c.*130del | ENSP00000501257.1:n.*130del | |
ENST00000302118.5:c.*130del MANE Select | ENSP00000303208.5:n.*130del | |
ENST00000490692.1:n.2755del | ||
NM_174936.3:c.*130del , LRG_275t1:c.*130del | NP_777596.2:n.*130del | |
NR_110451.1:n.1816del | ||
XM_011541193.1:c.*130del | XP_011539495.1:n.*130del | |
NM_174936.4:c.*130del MANE Select | NP_777596.2:n.*130del | |
NR_110451.2:n.1816del |