HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35576171_35576175del , CM000679.2:g.35576171_35576175del | GRCh38 |
NC_000017.10:g.33903190_33903194del , CM000679.1:g.33903190_33903194del | GRCh37 |
NC_000017.9:g.30927303_30927307del | NCBI36 |
NG_008447.1:g.7463_7467del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225873.9:c.687_691del MANE Select | ENSP00000225873.3:p.Ser229ArgfsTer? | |
ENST00000586663.2:c.687_691del | ENSP00000466894.2:p.Ser229ArgfsTer? | |
ENST00000225873.8:c.687_691del | ENSP00000225873.3:p.Ser229ArgfsTer? | |
ENST00000586663.1:c.687_691del | ENSP00000466894.1:p.Ser229ArgfsTer? | |
ENST00000613219.4:c.687_691del | ENSP00000482609.1:p.Ser229ArgfsTer? | |
NM_000286.2:c.687_691del | NP_000277.1:p.Ser229ArgfsTer? | |
NM_000286.3:c.687_691del MANE Select | NP_000277.1:p.Ser229ArgfsTer? |