HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89217184del , CM000677.2:g.89217184del | GRCh38 |
NC_000015.9:g.89760415del , CM000677.1:g.89760415del | GRCh37 |
NC_000015.8:g.87561419del | NCBI36 |
NG_008116.1:g.9508del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268125.10:c.282del MANE Select | ENSP00000268125.5:p.Phe95SerfsTer24 | |
ENST00000268125.9:c.282del | ENSP00000268125.5:p.Phe95SerfsTer24 | |
ENST00000567787.1:c.183+99del | ENSP00000457251.1:n.183+99del | |
NM_000326.4:c.282del | NP_000317.1:p.Phe95SerfsTer24 | |
XM_011521870.1:c.282del | XP_011520172.1:p.Phe95SerfsTer24 | |
XM_011521871.1:c.207del | XP_011520173.1:p.Phe70SerfsTer24 | |
XM_011521872.1:c.207del | XP_011520174.1:p.Phe70SerfsTer24 | |
XM_011521870.2:c.282del | XP_011520172.1:p.Phe95SerfsTer24 | |
XM_017022460.1:c.309del | XP_016877949.1:p.Phe104SerfsTer24 | |
NM_000326.5:c.282del MANE Select | NP_000317.1:p.Phe95SerfsTer24 |