HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631461_4631471del , CM000679.2:g.4631461_4631471del | GRCh38 |
NC_000017.10:g.4534756_4534766del , CM000679.1:g.4534756_4534766del | GRCh37 |
NC_000017.9:g.4481505_4481515del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.*130_*140del MANE Select | ENSP00000293761.3:n.*130_*140del | |
ENST00000293761.7:c.*130_*140del | ENSP00000293761.3:n.*130_*140del | |
ENST00000570836.5:c.*130_*140del | ENSP00000458832.1:n.*130_*140del | |
ENST00000574640.1:c.*130_*140del | ENSP00000460483.1:n.*130_*140del | |
NM_001140.3:c.*130_*140del | NP_001131.3:n.*130_*140del | |
NM_001140.4:c.*130_*140del | NP_001131.3:n.*130_*140del | |
NM_001140.5:c.*130_*140del MANE Select | NP_001131.3:n.*130_*140del |