HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42907561_42907562dup , CM000679.2:g.42907561_42907562dup | GRCh38 |
NC_000017.10:g.41059578_41059579dup , CM000679.1:g.41059578_41059579dup | GRCh37 |
NC_000017.9:g.38313104_38313105dup | NCBI36 |
NG_011808.1:g.11764_11765dup , LRG_147:g.11764_11765dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.379_380dup MANE Select | ENSP00000253801.1:p.Tyr128ThrfsTer3 | |
ENST00000253801.6:c.379_380dup | ENSP00000253801.1:p.Tyr128ThrfsTer3 | |
ENST00000585489.1:c.379_380dup | ENSP00000466202.1:p.Tyr128ThrfsTer3 | |
ENST00000592383.5:c.341-39_341-38dup | ENSP00000465958.1:n.341-39_341-38dup | |
NM_000151.3:c.379_380dup | NP_000142.2:p.Tyr128ThrfsTer3 | |
NM_001270397.1:c.341-39_341-38dup | NP_001257326.1:n.341-39_341-38dup | |
NM_000151.4:c.379_380dup MANE Select | NP_000142.2:p.Tyr128ThrfsTer3 | |
NM_001270397.2:c.341-39_341-38dup | NP_001257326.1:n.341-39_341-38dup |