HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734183_4734184del , CM000679.2:g.4734183_4734184del | GRCh38 |
NC_000017.10:g.4637478_4637479del , CM000679.1:g.4637478_4637479del | GRCh37 |
NC_000017.9:g.4584227_4584228del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*319_*320del MANE Select | ENSP00000293778.7:n.*319_*320del | |
ENST00000293778.10:c.*319_*320del | ENSP00000293778.6:n.*319_*320del | |
ENST00000576153.5:n.875_876del | ||
NM_022059.3:c.*319_*320del | NP_071342.2:n.*319_*320del | |
NM_022059.4:c.*319_*320del | NP_071342.2:n.*319_*320del | |
NM_001386809.1:c.*319_*320del MANE Select | NP_001373738.1:n.*319_*320del |