HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713388_37713390del , CM000684.2:g.37713388_37713390del | GRCh38 |
NC_000022.10:g.38109395_38109397del , CM000684.1:g.38109395_38109397del | GRCh37 |
NC_000022.9:g.36439341_36439343del | NCBI36 |
NG_012857.1:g.21401_21403del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.433_435del MANE Select | ENSP00000496394.1:p.Asp145del | |
ENST00000344404.10:c.255-2375_255-2373del | ENSP00000340312.6:n.255-2375_255-2373del | |
ENST00000406386.7:c.433_435del | ENSP00000384312.3:p.Asp145del | |
ENST00000455236.4:c.1390_1392del | ENSP00000477208.1:n.1390_1392del | |
ENST00000492485.5:n.391-2375_391-2373del | ||
NM_001039141.2:c.433_435del | NP_001034230.1:p.Asp145del | |
NM_001039141.3:c.433_435del MANE Select | NP_001034230.1:p.Asp145del |