HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215817050_215817051del , CM000663.2:g.215817050_215817051del | GRCh38 |
NC_000001.10:g.215990392_215990393del , CM000663.1:g.215990392_215990393del | GRCh37 |
NC_000001.9:g.214057015_214057016del | NCBI36 |
NG_009497.1:g.611348_611349del | |
NG_009497.2:g.611400_611401del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.9518_9519del MANE Select | ENSP00000305941.3:p.Cys3173SerfsTer4 | |
ENST00000674083.1:c.9518_9519del | ENSP00000501296.1:p.Cys3173SerfsTer4 | |
ENST00000307340.7:c.9518_9519del | ENSP00000305941.3:p.Cys3173SerfsTer4 | |
NM_206933.2:c.9518_9519del | NP_996816.2:p.Cys3173SerfsTer4 | |
NM_206933.3:c.9518_9519del | NP_996816.2:p.Cys3173SerfsTer4 | |
NM_206933.4:c.9518_9519del MANE Select | NP_996816.3:p.Cys3173SerfsTer4 |