HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520292_52520293del , CM000674.2:g.52520292_52520293del | GRCh38 |
NC_000012.11:g.52914076_52914077del , CM000674.1:g.52914076_52914077del | GRCh37 |
NC_000012.10:g.51200343_51200344del | NCBI36 |
NG_008297.1:g.5169_5170del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.6_7del MANE Select | ENSP00000252242.4:p.Arg3ProfsTer13 | |
ENST00000252242.8:c.6_7del | ENSP00000252242.4:p.Arg3ProfsTer13 | |
ENST00000546577.1:c.6_7del | ENSP00000449651.1:p.Arg3ProfsTer13 | |
ENST00000549420.1:c.6_7del | ENSP00000447209.1:p.Arg3ProfsTer? | |
ENST00000551275.1:c.6_7del | ENSP00000448041.1:p.Arg3ProfsTer13 | |
ENST00000552629.5:n.104_105del | ||
NM_000424.3:c.6_7del | NP_000415.2:p.Arg3ProfsTer13 | |
NM_000424.4:c.6_7del MANE Select | NP_000415.2:p.Arg3ProfsTer13 |