HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107710103del , CM000669.2:g.107710103del | GRCh38 |
NC_000007.13:g.107350548del , CM000669.1:g.107350548del | GRCh37 |
NC_000007.12:g.107137784del | NCBI36 |
NG_008489.1:g.54469del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.2139del MANE Select | ENSP00000494017.1:p.Arg714GlufsTer7 | |
ENST00000644846.1:c.795del | ||
ENST00000265715.7:c.2139del | ENSP00000265715.3:p.Arg714GlufsTer7 | |
ENST00000492030.2:n.377-52del | ||
NM_000441.1:c.2139del | NP_000432.1:p.Arg714GlufsTer7 | |
XM_005250425.1:c.2139del | XP_005250482.1:p.Arg714GlufsTer7 | |
XM_005250425.2:c.2139del | XP_005250482.1:p.Arg714GlufsTer7 | |
XM_017012318.1:c.2061del | XP_016867807.1:p.Arg688GlufsTer7 | |
NM_000441.2:c.2139del MANE Select | NP_000432.1:p.Arg714GlufsTer7 |