HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20425745_20425757del , CM000684.2:g.20425745_20425757del | GRCh38 |
NG_031868.2:g.17108_17120del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000622235.5:c.2224_2236del MANE Select | ENSP00000477564.2:p.Arg742AlafsTer? | |
ENST00000615031.4:c.2239_2250del | ||
ENST00000622235.4:c.2224_2236del | ENSP00000477564.1:p.Arg742AlafsTer? | |
ENST00000623402.1:c.2239_2251del | ENSP00000485276.1:p.Arg747AlafsTer? | |
NM_153334.6:c.2239_2251del | NP_699165.3:p.Arg747AlafsTer? | |
NM_182895.4:c.2224_2236del | NP_878315.2:p.Arg742AlafsTer? | |
NM_153334.7:c.2239_2251del | NP_699165.3:p.Arg747AlafsTer? | |
NM_182895.5:c.2224_2236del MANE Select | NP_878315.2:p.Arg742AlafsTer? |