HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872503_124872506del , CM000673.2:g.124872503_124872506del | GRCh38 |
NC_000011.9:g.124742399_124742402del , CM000673.1:g.124742399_124742402del | GRCh37 |
NC_000011.8:g.124247609_124247612del | NCBI36 |
NG_016214.1:g.12095_12098del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1281_1284del MANE Select | ENSP00000380903.1:p.Ser428TrpfsTer13 | |
ENST00000397801.5:c.1281_1284del | ENSP00000380903.1:p.Ser428TrpfsTer13 | |
ENST00000538940.5:c.1215_1218del | ENSP00000441797.1:p.Ser406TrpfsTer13 | |
NM_022370.3:c.1281_1284del | NP_071765.2:p.Ser428TrpfsTer13 | |
XM_011542953.1:c.2253_2256del | XP_011541255.1:p.Ser752TrpfsTer13 | |
XM_017018122.1:c.1215_1218del | XP_016873611.1:p.Ser406TrpfsTer13 | |
NM_022370.4:c.1281_1284del MANE Select | NP_071765.2:p.Ser428TrpfsTer13 |