HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612635del , CM000679.2:g.41612635del | GRCh38 |
NC_000017.10:g.39768887del , CM000679.1:g.39768887del | GRCh37 |
NC_000017.9:g.37022413del | NCBI36 |
NG_008301.1:g.5193del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.54del MANE Select | ENSP00000301653.3:p.Cys18TrpfsTer? | |
ENST00000301653.8:c.54del | ENSP00000301653.3:p.Cys18TrpfsTer? | |
ENST00000588319.1:n.131del | ||
ENST00000590990.1:c.54del | ENSP00000467105.1:p.Cys18TrpfsTer? | |
ENST00000593067.1:c.-313+155del | ENSP00000467124.1:n.-313+155del | |
NM_005557.3:c.54del | NP_005548.2:p.Cys18TrpfsTer? | |
NM_005557.4:c.54del MANE Select | NP_005548.2:p.Cys18TrpfsTer? |