HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115455_10115466del , CM000681.2:g.10115455_10115466del | GRCh38 |
NC_000019.9:g.10226131_10226142del , CM000681.1:g.10226131_10226142del | GRCh37 |
NC_000019.8:g.10087131_10087142del | NCBI36 |
NG_047007.1:g.8935_8946del | |
NG_051197.1:g.9465_9476del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253108.9:c.947+19_947+30del MANE Select | ENSP00000253108.3:n.947+19_947+30del | |
ENST00000253108.8:c.947+19_947+30del | ENSP00000253108.3:n.947+19_947+30del | |
ENST00000590158.1:n.966+19_966+30del | ||
ENST00000593054.5:c.341+19_341+30del | ENSP00000467187.1:n.341+19_341+30del | |
NM_003755.3:c.947+19_947+30del | NP_003746.2:n.947+19_947+30del | |
NM_003755.4:c.947+19_947+30del | NP_003746.2:n.947+19_947+30del | |
NM_003755.5:c.947+19_947+30del MANE Select | NP_003746.2:n.947+19_947+30del |