HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713383_37713384del , CM000684.2:g.37713383_37713384del | GRCh38 |
NC_000022.10:g.38109390_38109391del , CM000684.1:g.38109390_38109391del | GRCh37 |
NC_000022.9:g.36439336_36439337del | NCBI36 |
NG_012857.1:g.21396_21397del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.428_429del MANE Select | ENSP00000496394.1:p.Pro143ArgfsTer2 | |
ENST00000344404.10:c.255-2380_255-2379del | ENSP00000340312.6:n.255-2380_255-2379del | |
ENST00000406386.7:c.428_429del | ENSP00000384312.3:p.Pro143ArgfsTer2 | |
ENST00000455236.4:c.1385_1386del | ENSP00000477208.1:n.1385_1386del | |
ENST00000492485.5:n.391-2380_391-2379del | ||
NM_001039141.2:c.428_429del | NP_001034230.1:p.Pro143ArgfsTer2 | |
NM_001039141.3:c.428_429del MANE Select | NP_001034230.1:p.Pro143ArgfsTer2 |