HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911422_42911424del , CM000679.2:g.42911422_42911424del | GRCh38 |
NC_000017.10:g.41063439_41063441del , CM000679.1:g.41063439_41063441del | GRCh37 |
NC_000017.9:g.38316965_38316967del | NCBI36 |
NG_011808.1:g.15625_15627del , LRG_147:g.15625_15627del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.1070_1072del MANE Select | ENSP00000253801.1:p.Leu357Ter | |
ENST00000253801.6:c.1070_1072del | ENSP00000253801.1:p.Leu357Ter | |
ENST00000585489.1:c.*462_*464del | ENSP00000466202.1:n.*462_*464del | |
NM_000151.3:c.1070_1072del | NP_000142.2:p.Leu357Ter | |
NM_001270397.1:c.*462_*464del | NP_001257326.1:n.*462_*464del | |
NM_000151.4:c.1070_1072del MANE Select | NP_000142.2:p.Leu357Ter | |
NM_001270397.2:c.*462_*464del | NP_001257326.1:n.*462_*464del |