HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47284693del , CM000679.2:g.47284693del | GRCh38 |
NC_000017.10:g.45362059del , CM000679.1:g.45362059del | GRCh37 |
NC_000017.9:g.42717058del | NCBI36 |
NG_008332.2:g.35852del , LRG_481:g.35852del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.612del | ENSP00000513002.1:p.Tyr204Ter | |
ENST00000559488.7:c.612del MANE Select | ENSP00000452786.2:p.Tyr204Ter | |
ENST00000559488.5:c.612del | ENSP00000452786.1:p.Tyr204Ter | |
ENST00000560629.1:c.577del | ||
ENST00000571680.1:c.612del | ENSP00000461626.1:p.Tyr204Ter | |
NM_000212.2:c.612del , LRG_481t1:c.612del | NP_000203.2:p.Tyr204Ter | |
NM_000212.3:c.612del MANE Select | NP_000203.2:p.Tyr204Ter |