Linked Data
ClinVar Variation Id:
189445
dbSNP Id:
rs786204897
gnomAD v3:
10-87863219-G-GT
gnomAD v4:
10-87863219-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863222dup , CM000672.2:g.87863222dup | GRCh38 |
| NC_000010.10:g.89622979dup , CM000672.1:g.89622979dup | GRCh37 |
| NC_000010.9:g.89612959dup | NCBI36 |
| NG_007466.2:g.4785dup , LRG_311:g.4785dup | |
| NG_033079.1:g.5218dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+580dup (PTEN) | ENSP00000516674.1:n.-17+580dup | |
| ENST00000688308.1:c.-17+109dup (PTEN) | ENSP00000508752.1:n.-17+109dup | |
| ENST00000445946.5:c.-733dup (KLLN) MANE Select | ENSP00000392204.2:n.-733dup | |
| ENST00000371953.7:c.-1248dup (PTEN) | ENSP00000361021.3:n.-1248dup | |
| ENST00000445946.3:c.-733dup (KLLN) | ENSP00000392204.2:n.-733dup | |
| NM_001126049.1:c.-733dup (KLLN) | NP_001119521.1:n.-733dup | |
| NM_001126049.2:c.-733dup (KLLN) MANE Select | NP_001119521.1:n.-733dup |