HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734398_4734399del , CM000679.2:g.4734398_4734399del | GRCh38 |
NC_000017.10:g.4637693_4637694del , CM000679.1:g.4637693_4637694del | GRCh37 |
NC_000017.9:g.4584442_4584443del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*104_*105del MANE Select | ENSP00000293778.7:n.*104_*105del | |
ENST00000574412.6:c.*207_*208del | ENSP00000459592.2:n.*207_*208del | |
ENST00000293778.10:c.*104_*105del | ENSP00000293778.6:n.*104_*105del | |
ENST00000574412.5:c.*207_*208del | ENSP00000459592.1:n.*207_*208del | |
ENST00000576153.5:n.660_661del | ||
NM_022059.3:c.*104_*105del | NP_071342.2:n.*104_*105del | |
NM_022059.4:c.*104_*105del | NP_071342.2:n.*104_*105del | |
NM_001386809.1:c.*104_*105del MANE Select | NP_001373738.1:n.*104_*105del |