HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19962839_19962846del , CM000670.2:g.19962839_19962846del | GRCh38 |
NC_000008.10:g.19820350_19820357del , CM000670.1:g.19820350_19820357del | GRCh37 |
NC_000008.9:g.19864630_19864637del | NCBI36 |
NG_008855.1:g.28769_28776del | |
NG_008855.2:g.66123_66130del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1427+620_1427+627del MANE Select | ENSP00000497642.1:n.1427+620_1427+627del | |
ENST00000650478.1:c.367+620_367+627del | ENSP00000497560.1:n.367+620_367+627del | |
ENST00000311322.8:c.1427+620_1427+627del | ENSP00000309757.6:n.1427+620_1427+627del | |
NM_000237.2:c.1427+620_1427+627del | NP_000228.1:n.1427+620_1427+627del | |
NM_000237.3:c.1427+620_1427+627del MANE Select | NP_000228.1:n.1427+620_1427+627del |