HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863060_87863061del , CM000672.2:g.87863060_87863061del | GRCh38 |
NC_000010.10:g.89622817_89622818del , CM000672.1:g.89622817_89622818del | GRCh37 |
NC_000010.9:g.89612797_89612798del | NCBI36 |
NG_007466.2:g.4623_4624del , LRG_311:g.4623_4624del | |
NG_033079.1:g.5377_5378del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+418_-17+419del (PTEN) | ENSP00000516674.1:n.-17+418_-17+419del | |
ENST00000688308.1:c.-70_-69del (PTEN) | ENSP00000508752.1:n.-70_-69del | |
ENST00000445946.5:c.-574_-573del (KLLN) MANE Select | ENSP00000392204.2:n.-574_-573del | |
ENST00000445946.3:c.-574_-573del (KLLN) | ENSP00000392204.2:n.-574_-573del | |
NM_001126049.1:c.-574_-573del (KLLN) | NP_001119521.1:n.-574_-573del | |
NM_001126049.2:c.-574_-573del (KLLN) MANE Select | NP_001119521.1:n.-574_-573del |