HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30221479_30221494del , CM000679.2:g.30221479_30221494del | GRCh38 |
NC_000017.10:g.28548497_28548512del , CM000679.1:g.28548497_28548512del | GRCh37 |
NC_000017.9:g.25572623_25572638del | NCBI36 |
NG_011747.2:g.19445_19460del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.343+124_343+139del MANE Select | ENSP00000498537.1:n.343+124_343+139del | |
ENST00000261707.7:c.343+124_343+139del | ENSP00000261707.3:n.343+124_343+139del | |
ENST00000394821.2:c.343+124_343+139del | ENSP00000378298.2:n.343+124_343+139del | |
ENST00000401766.6:c.343+124_343+139del | ENSP00000385822.2:n.343+124_343+139del | |
NM_001045.5:c.343+124_343+139del | NP_001036.1:n.343+124_343+139del | |
NM_001045.6:c.343+124_343+139del MANE Select | NP_001036.1:n.343+124_343+139del |