HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40843665_40843675del , CM000681.2:g.40843665_40843675del | GRCh38 |
NC_000019.9:g.41349570_41349580del , CM000681.1:g.41349570_41349580del | GRCh37 |
NC_000019.8:g.46041410_46041420del | NCBI36 |
NG_008377.1:g.11775_11785del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.*123_*133del MANE Select | ENSP00000301141.4:n.*123_*133del | |
ENST00000301141.9:c.*123_*133del | ENSP00000301141.4:n.*123_*133del | |
ENST00000599960.1:n.527_537del | ||
ENST00000601627.1:c.119+42250_119+42260del | ||
NM_000762.5:c.*123_*133del | NP_000753.3:n.*123_*133del | |
NM_000762.6:c.*123_*133del MANE Select | NP_000753.3:n.*123_*133del |