HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863436_87863440dup , CM000672.2:g.87863436_87863440dup | GRCh38 |
NC_000010.10:g.89623193_89623197dup , CM000672.1:g.89623193_89623197dup | GRCh37 |
NC_000010.9:g.89613173_89613177dup | NCBI36 |
NG_007466.2:g.4999_5003dup , LRG_311:g.4999_5003dup | |
NG_033079.1:g.5012_5016dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+794_-17+798dup (PTEN) | ENSP00000516674.1:n.-17+794_-17+798dup | |
ENST00000688308.1:c.-17+323_-17+327dup (PTEN) | ENSP00000508752.1:n.-17+323_-17+327dup | |
ENST00000445946.5:c.-939_-935dup (KLLN) MANE Select | ENSP00000392204.2:n.-939_-935dup | |
ENST00000371953.7:c.-1034_-1030dup (PTEN) | ENSP00000361021.3:n.-1034_-1030dup | |
NM_001126049.2:c.-939_-935dup (KLLN) MANE Select | NP_001119521.1:n.-939_-935dup |