HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94060646_94060651del , CM000663.2:g.94060646_94060651del | GRCh38 |
NC_000001.10:g.94526202_94526207del , CM000663.1:g.94526202_94526207del | GRCh37 |
NC_000001.9:g.94298790_94298795del | NCBI36 |
NG_009073.1:g.65501_65506del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2048_2053del MANE Select | ENSP00000359245.3:p.Lys683_Glu684del | |
ENST00000649773.1:c.2048_2053del | ENSP00000496882.1:p.Lys683_Glu684del | |
ENST00000370225.3:c.2048_2053del | ENSP00000359245.3:p.Lys683_Glu684del | |
ENST00000472033.1:n.168_173del | ||
ENST00000536513.5:c.-65+2525_-65+2530del | ENSP00000439707.2:n.-65+2525_-65+2530del | |
NM_000350.2:c.2048_2053del | NP_000341.2:p.Lys683_Glu684del | |
NM_000350.3:c.2048_2053del MANE Select | NP_000341.2:p.Lys683_Glu684del |