HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55811635_55811661del , CM000673.2:g.55811635_55811661del | GRCh38 |
NC_000011.9:g.55579111_55579137del , CM000673.1:g.55579111_55579137del | GRCh37 |
NC_000011.8:g.55335687_55335713del | NCBI36 |
NG_052620.1:g.5269_5295del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.169_195del MANE Select | ENSP00000485319.1:p.Thr57_His65del | |
ENST00000333973.3:c.169_195del | ENSP00000335529.2:p.Thr57_His65del | |
ENST00000623450.1:c.169_195del | ENSP00000485509.1:p.Thr57_His65del | |
ENST00000625203.1:c.169_195del | ENSP00000485319.1:p.Thr57_His65del | |
NM_001004738.1:c.169_195del | NP_001004738.1:p.Thr57_His65del | |
NM_001004738.2:c.169_195del MANE Select | NP_001004738.1:p.Thr57_His65del |