Linked Data
ClinVar Variation Id:
189435
dbSNP Id:
rs786203072
gnomAD v2:
10-89623132-ACTCTGCGCTCGCACCCAGAGCTACCG-A
gnomAD v3:
10-87863375-ACTCTGCGCTCGCACCCAGAGCTACCG-A
gnomAD v4:
10-87863375-ACTCTGCGCTCGCACCCAGAGCTACCG-A
MyVariant Identifiers:
chr10:g.89623139_89623164del (hg19)
chr10:g.89623133_89623158del (hg19)
chr10:g.87863382_87863407del (hg38)
chr10:g.87863376_87863401del (hg38)
PubMed:
PMID:12844284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863382_87863407del , CM000672.2:g.87863382_87863407del | GRCh38 |
| NC_000010.10:g.89623139_89623164del , CM000672.1:g.89623139_89623164del | GRCh37 |
| NC_000010.9:g.89613119_89613144del | NCBI36 |
| NG_007466.2:g.4945_4970del , LRG_311:g.4945_4970del | |
| NG_033079.1:g.5037_5062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+740_-17+765del (PTEN) | ENSP00000516674.1:n.-17+740_-17+765del | |
| ENST00000688308.1:c.-17+269_-17+294del (PTEN) | ENSP00000508752.1:n.-17+269_-17+294del | |
| ENST00000445946.5:c.-914_-889del (KLLN) MANE Select | ENSP00000392204.2:n.-914_-889del | |
| ENST00000371953.7:c.-1088_-1063del (PTEN) | ENSP00000361021.3:n.-1088_-1063del | |
| ENST00000445946.3:c.-914_-889del (KLLN) | ENSP00000392204.2:n.-914_-889del | |
| NM_001126049.1:c.-914_-889del (KLLN) | NP_001119521.1:n.-914_-889del | |
| NM_001126049.2:c.-914_-889del (KLLN) MANE Select | NP_001119521.1:n.-914_-889del |