HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17053942_17053946del , CM000663.2:g.17053942_17053946del | GRCh38 |
NC_000001.10:g.17380437_17380441del , CM000663.1:g.17380437_17380441del | GRCh37 |
NC_000001.9:g.17253024_17253028del | NCBI36 |
NG_012340.1:g.5225_5229del , LRG_316:g.5225_5229del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375499.8:c.72+2_72+6del MANE Select | ENSP00000364649.3:n.72+2_72+6del | |
ENST00000375499.7:c.72+2_72+6del | ENSP00000364649.3:n.72+2_72+6del | |
ENST00000466613.2:n.84+2_84+6del | ||
ENST00000485515.5:n.60+2_60+6del | ||
NM_003000.2:c.72+2_72+6del , LRG_316t1:c.72+2_72+6del | NP_002991.2:n.72+2_72+6del | |
NM_003000.3:c.72+2_72+6del MANE Select | NP_002991.2:n.72+2_72+6del |