HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911419_42911421del , CM000679.2:g.42911419_42911421del | GRCh38 |
NC_000017.10:g.41063436_41063438del , CM000679.1:g.41063436_41063438del | GRCh37 |
NC_000017.9:g.38316962_38316964del | NCBI36 |
NG_011808.1:g.15622_15624del , LRG_147:g.15622_15624del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.1067_1069del MANE Select | ENSP00000253801.1:p.Ser356del | |
ENST00000253801.6:c.1067_1069del | ENSP00000253801.1:p.Ser356del | |
ENST00000585489.1:c.*459_*461del | ENSP00000466202.1:n.*459_*461del | |
NM_000151.3:c.1067_1069del | NP_000142.2:p.Ser356del | |
NM_001270397.1:c.*459_*461del | NP_001257326.1:n.*459_*461del | |
NM_000151.4:c.1067_1069del MANE Select | NP_000142.2:p.Ser356del | |
NM_001270397.2:c.*459_*461del | NP_001257326.1:n.*459_*461del |