HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40845180_40845185del , CM000681.2:g.40845180_40845185del | GRCh38 |
NC_000019.9:g.41351085_41351090del , CM000681.1:g.41351085_41351090del | GRCh37 |
NC_000019.8:g.46042925_46042930del | NCBI36 |
NG_008377.1:g.10263_10268del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301141.10:c.1161+109_1161+114del MANE Select | ENSP00000301141.4:n.1161+109_1161+114del | |
ENST00000301141.9:c.1161+109_1161+114del | ENSP00000301141.4:n.1161+109_1161+114del | |
ENST00000596719.5:n.1121_1126del | ||
ENST00000601627.1:c.119+43765_119+43770del | ||
ENST00000610301.1:c.1161+109_1161+114del | ENSP00000477899.1:n.1161+109_1161+114del | |
NM_000762.5:c.1161+109_1161+114del | NP_000753.3:n.1161+109_1161+114del | |
NM_000762.6:c.1161+109_1161+114del MANE Select | NP_000753.3:n.1161+109_1161+114del |