HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713499_6713500del , CM000681.2:g.6713499_6713500del | GRCh38 |
NC_000019.9:g.6713510_6713511del , CM000681.1:g.6713510_6713511del | GRCh37 |
NC_000019.8:g.6664510_6664511del | NCBI36 |
NG_009557.1:g.12152_12153del , LRG_27:g.12152_12153del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.660_661del | ENSP00000512083.1:p.Tyr220Ter | |
ENST00000695692.1:n.107_108del | ||
ENST00000245907.11:c.783_784del MANE Select | ENSP00000245907.4:p.Tyr261Ter | |
ENST00000245907.10:c.783_784del | ENSP00000245907.4:p.Tyr261Ter | |
ENST00000595577.1:n.287_288del | ||
ENST00000597442.5:n.33_34del | ||
NM_000064.3:c.783_784del | NP_000055.2:p.Tyr261Ter | |
NM_000064.4:c.783_784del MANE Select | NP_000055.2:p.Tyr261Ter |