HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863027_87863028dup , CM000672.2:g.87863027_87863028dup | GRCh38 |
NC_000010.10:g.89622784_89622785dup , CM000672.1:g.89622784_89622785dup | GRCh37 |
NC_000010.9:g.89612764_89612765dup | NCBI36 |
NG_007466.2:g.4590_4591dup , LRG_311:g.4590_4591dup | |
NG_033079.1:g.5414_5415dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+385_-17+386dup (PTEN) | ENSP00000516674.1:n.-17+385_-17+386dup | |
ENST00000688308.1:c.-103_-102dup (PTEN) | ENSP00000508752.1:n.-103_-102dup | |
ENST00000445946.5:c.-537_-536dup (KLLN) MANE Select | ENSP00000392204.2:n.-537_-536dup | |
ENST00000445946.3:c.-537_-536dup (KLLN) | ENSP00000392204.2:n.-537_-536dup | |
NM_001126049.1:c.-537_-536dup (KLLN) | NP_001119521.1:n.-537_-536dup | |
NM_001126049.2:c.-537_-536dup (KLLN) MANE Select | NP_001119521.1:n.-537_-536dup |