Linked Data
ClinVar Variation Id:
189433
dbSNP Id:
rs587781340
gnomAD v2:
10-89623026-TGCAAAAGCCGCA-T
gnomAD v3:
10-87863269-TGCAAAAGCCGCA-T
gnomAD v4:
10-87863269-TGCAAAAGCCGCA-T
MyVariant Identifiers:
chr10:g.89623031_89623042del (hg19)
chr10:g.89623027_89623038del (hg19)
chr10:g.87863274_87863285del (hg38)
chr10:g.87863270_87863281del (hg38)
ERepo:
CA163819/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863274_87863285del , CM000672.2:g.87863274_87863285del | GRCh38 |
| NC_000010.10:g.89623031_89623042del , CM000672.1:g.89623031_89623042del | GRCh37 |
| NC_000010.9:g.89613011_89613022del | NCBI36 |
| NG_007466.2:g.4837_4848del , LRG_311:g.4837_4848del | |
| NG_033079.1:g.5157_5168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+632_-17+643del (PTEN) | ENSP00000516674.1:n.-17+632_-17+643del | |
| ENST00000688308.1:c.-17+161_-17+172del (PTEN) | ENSP00000508752.1:n.-17+161_-17+172del | |
| ENST00000445946.5:c.-794_-783del (KLLN) MANE Select | ENSP00000392204.2:n.-794_-783del | |
| ENST00000371953.7:c.-1196_-1185del (PTEN) | ENSP00000361021.3:n.-1196_-1185del | |
| ENST00000445946.3:c.-794_-783del (KLLN) | ENSP00000392204.2:n.-794_-783del | |
| NM_001126049.1:c.-794_-783del (KLLN) | NP_001119521.1:n.-794_-783del | |
| NM_001126049.2:c.-794_-783del (KLLN) MANE Select | NP_001119521.1:n.-794_-783del |