HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942626_94942630del , CM000672.2:g.94942626_94942630del | GRCh38 |
NC_000010.10:g.96702383_96702387del , CM000672.1:g.96702383_96702387del | GRCh37 |
NC_000010.9:g.96692373_96692377del | NCBI36 |
NG_008385.1:g.8969_8973del | |
NG_008385.2:g.9469_9473del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.481+285_481+289del MANE Select | ENSP00000260682.6:n.481+285_481+289del | |
ENST00000643112.1:c.481+285_481+289del | ENSP00000496202.1:n.481+285_481+289del | |
ENST00000645207.1:n.634+285_634+289del | ||
ENST00000260682.6:c.481+285_481+289del | ENSP00000260682.6:n.481+285_481+289del | |
ENST00000461906.1:n.791_795del | ||
ENST00000473496.1:n.252+285_252+289del | ||
NM_000771.3:c.481+285_481+289del | NP_000762.2:n.481+285_481+289del | |
NM_000771.4:c.481+285_481+289del MANE Select | NP_000762.2:n.481+285_481+289del |