HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115411_10115425del , CM000681.2:g.10115411_10115425del | GRCh38 |
NC_000019.9:g.10226087_10226101del , CM000681.1:g.10226087_10226101del | GRCh37 |
NC_000019.8:g.10087087_10087101del | NCBI36 |
NG_047007.1:g.8891_8905del | |
NG_051197.1:g.9502_9516del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253108.9:c.947+56_947+70del MANE Select | ENSP00000253108.3:n.947+56_947+70del | |
ENST00000253108.8:c.947+56_947+70del | ENSP00000253108.3:n.947+56_947+70del | |
ENST00000590158.1:n.966+56_966+70del | ||
ENST00000593054.5:c.341+56_341+70del | ENSP00000467187.1:n.341+56_341+70del | |
NM_003755.3:c.947+56_947+70del | NP_003746.2:n.947+56_947+70del | |
NM_003755.4:c.947+56_947+70del | NP_003746.2:n.947+56_947+70del | |
NM_003755.5:c.947+56_947+70del MANE Select | NP_003746.2:n.947+56_947+70del |