HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18388585_18388594del , CM000681.2:g.18388585_18388594del | GRCh38 |
NC_000019.9:g.18499395_18499404del , CM000681.1:g.18499395_18499404del | GRCh37 |
NC_000019.8:g.18360395_18360404del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595973.3:c.577_586del | ENSP00000470531.3:p.Arg193ValfsTer? | |
ENST00000597765.2:c.577_586del | ENSP00000469819.2:p.Arg193ValfsTer? | |
ENST00000252809.3:c.577_586del MANE Select | ENSP00000252809.3:p.Arg193ValfsTer? | |
NM_004864.2:c.577_586del | NP_004855.2:p.Arg193ValfsTer? | |
NM_004864.3:c.577_586del | NP_004855.2:p.Arg193ValfsTer? | |
XM_024451789.1:c.577_586del | XP_024307557.1:p.Arg193ValfsTer? | |
NM_004864.4:c.577_586del MANE Select | NP_004855.2:p.Arg193ValfsTer? |