Linked Data
dbSNP Id:
rs1379142044
gnomAD v2:
10-89622912-ATC-A
gnomAD v3:
10-87863155-ATC-A
gnomAD v4:
10-87863155-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863158_87863159del , CM000672.2:g.87863158_87863159del | GRCh38 |
| NC_000010.10:g.89622915_89622916del , CM000672.1:g.89622915_89622916del | GRCh37 |
| NC_000010.9:g.89612895_89612896del | NCBI36 |
| NG_007466.2:g.4721_4722del , LRG_311:g.4721_4722del | |
| NG_033079.1:g.5281_5282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+516_-17+517del (PTEN) | ENSP00000516674.1:n.-17+516_-17+517del | |
| ENST00000688308.1:c.-17+45_-17+46del (PTEN) | ENSP00000508752.1:n.-17+45_-17+46del | |
| ENST00000445946.5:c.-670_-669del (KLLN) MANE Select | ENSP00000392204.2:n.-670_-669del | |
| ENST00000371953.7:c.-1312_-1311del (PTEN) | ENSP00000361021.3:n.-1312_-1311del | |
| ENST00000445946.3:c.-670_-669del (KLLN) | ENSP00000392204.2:n.-670_-669del | |
| NM_001126049.1:c.-670_-669del (KLLN) | NP_001119521.1:n.-670_-669del | |
| NM_001126049.2:c.-670_-669del (KLLN) MANE Select | NP_001119521.1:n.-670_-669del |