HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612147_41612148del , CM000679.2:g.41612147_41612148del | GRCh38 |
NC_000017.10:g.39768399_39768400del , CM000679.1:g.39768399_39768400del | GRCh37 |
NC_000017.9:g.37021925_37021926del | NCBI36 |
NG_008301.1:g.5681_5682del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.531+11_531+12del MANE Select | ENSP00000301653.3:n.531+11_531+12del | |
ENST00000301653.8:c.531+11_531+12del | ENSP00000301653.3:n.531+11_531+12del | |
ENST00000588319.1:n.619_620del | ||
ENST00000593067.1:c.-184+11_-184+12del | ENSP00000467124.1:n.-184+11_-184+12del | |
NM_005557.3:c.531+11_531+12del | NP_005548.2:n.531+11_531+12del | |
NM_005557.4:c.531+11_531+12del MANE Select | NP_005548.2:n.531+11_531+12del |