HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911386_42911387delinsGA , CM000679.2:g.42911386_42911387delinsGA | GRCh38 |
NC_000017.10:g.41063403_41063404delinsGA , CM000679.1:g.41063403_41063404delinsGA | GRCh37 |
NC_000017.9:g.38316929_38316930delinsGA | NCBI36 |
NG_011808.1:g.15589_15590delinsGA , LRG_147:g.15589_15590delinsGA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.1034_1035delinsGA MANE Select | ENSP00000253801.1:p.Leu345Arg | |
ENST00000253801.6:c.1034_1035delinsGA | ENSP00000253801.1:p.Leu345Arg | |
ENST00000585489.1:c.*426_*427delinsGA | ENSP00000466202.1:n.*426_*427delinsGA | |
NM_000151.3:c.1034_1035delinsGA | NP_000142.2:p.Leu345Arg | |
NM_001270397.1:c.*426_*427delinsGA | NP_001257326.1:n.*426_*427delinsGA | |
NM_000151.4:c.1034_1035delinsGA MANE Select | NP_000142.2:p.Leu345Arg | |
NM_001270397.2:c.*426_*427delinsGA | NP_001257326.1:n.*426_*427delinsGA |