Linked Data
ClinVar Variation Id:
823374
ClinVar RCV Id:
RCV001019571
dbSNP Id:
rs1275172062
gnomAD v3:
10-87863507-GC-G
gnomAD v4:
10-87863507-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863510del , CM000672.2:g.87863510del | GRCh38 |
| NC_000010.10:g.89623267del , CM000672.1:g.89623267del | GRCh37 |
| NC_000010.9:g.89613247del | NCBI36 |
| NG_007466.2:g.5073del , LRG_311:g.5073del | |
| NG_033079.1:g.4930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+868del (PTEN) | ENSP00000516674.1:n.-17+868del | |
| ENST00000688308.1:c.-17+397del (PTEN) | ENSP00000508752.1:n.-17+397del | |
| ENST00000693560.1:c.-440del (PTEN) | ENSP00000509861.1:n.-440del | |
| ENST00000445946.5:c.-1021del (KLLN) MANE Select | ENSP00000392204.2:n.-1021del | |
| ENST00000371953.7:c.-960del (PTEN) | ENSP00000361021.3:n.-960del | |
| ENST00000610634.1:c.-1062del (PTEN) | ENSP00000477517.1:n.-1062del | |
| NM_000314.5:c.-959del (PTEN) | NP_000305.3:n.-959del | |
| NM_000314.6:c.-959del (PTEN) | NP_000305.3:n.-959del | |
| NM_001304717.2:c.-440del (PTEN) | NP_001291646.2:n.-440del | |
| NM_001304718.1:c.-1664del (PTEN) | NP_001291647.1:n.-1664del | |
| NM_001126049.2:c.-1021del (KLLN) MANE Select | NP_001119521.1:n.-1021del |