HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942391_94942392del , CM000672.2:g.94942391_94942392del | GRCh38 |
NC_000010.10:g.96702148_96702149del , CM000672.1:g.96702148_96702149del | GRCh37 |
NC_000010.9:g.96692138_96692139del | NCBI36 |
NG_008385.1:g.8734_8735del | |
NG_008385.2:g.9234_9235del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.481+50_481+51del MANE Select | ENSP00000260682.6:n.481+50_481+51del | |
ENST00000643112.1:c.481+50_481+51del | ENSP00000496202.1:n.481+50_481+51del | |
ENST00000645207.1:n.634+50_634+51del | ||
ENST00000260682.6:c.481+50_481+51del | ENSP00000260682.6:n.481+50_481+51del | |
ENST00000461906.1:n.556_557del | ||
ENST00000473496.1:n.252+50_252+51del | ||
NM_000771.3:c.481+50_481+51del | NP_000762.2:n.481+50_481+51del | |
NM_000771.4:c.481+50_481+51del MANE Select | NP_000762.2:n.481+50_481+51del |