HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40471267_40471291del , CM000677.2:g.40471267_40471291del | GRCh38 |
NC_000015.9:g.40763466_40763490del , CM000677.1:g.40763466_40763490del | GRCh37 |
NC_000015.8:g.38550758_38550782del | NCBI36 |
NG_017074.1:g.5307_5331del , LRG_600:g.5307_5331del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306243.7:c.54_78del MANE Select | ENSP00000307297.6:p.Gly19TrpfsTer19 | |
ENST00000306243.6:c.54_78del | ENSP00000307297.5:p.Gly19TrpfsTer19 | |
ENST00000559991.1:c.54_78del | ENSP00000453882.1:p.Gly19TrpfsTer19 | |
NM_130468.3:c.54_78del , LRG_600t1:c.54_78del | NP_569735.1:p.Gly19TrpfsTer19 | |
NM_130468.4:c.54_78del MANE Select | NP_569735.1:p.Gly19TrpfsTer19 |