Linked Data
ClinVar Variation Id:
142906
dbSNP Id:
rs587782811
MyVariant Identifiers:
chr10:g.89623232_89623242dupTCGCCTCCCGC (hg19)
chr10:g.87863475_87863485dupTCGCCTCCCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863475_87863485dup , CM000672.2:g.87863475_87863485dup | GRCh38 |
| NC_000010.10:g.89623232_89623242dup , CM000672.1:g.89623232_89623242dup | GRCh37 |
| NC_000010.9:g.89613212_89613222dup | NCBI36 |
| NG_007466.2:g.5038_5048dup , LRG_311:g.5038_5048dup | |
| NG_033079.1:g.4956_4966dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+833_-17+843dup (PTEN) | ENSP00000516674.1:n.-17+833_-17+843dup | |
| ENST00000688308.1:c.-17+362_-17+372dup (PTEN) | ENSP00000508752.1:n.-17+362_-17+372dup | |
| ENST00000693560.1:c.-475_-465dup (PTEN) | ENSP00000509861.1:n.-475_-465dup | |
| ENST00000445946.5:c.-995_-985dup (KLLN) MANE Select | ENSP00000392204.2:n.-995_-985dup | |
| ENST00000371953.7:c.-995_-985dup (PTEN) | ENSP00000361021.3:n.-995_-985dup | |
| ENST00000610634.1:c.-1097_-1087dup (PTEN) | ENSP00000477517.1:n.-1097_-1087dup | |
| NM_000314.5:c.-994_-984dup (PTEN) | NP_000305.3:n.-994_-984dup | |
| NM_000314.6:c.-994_-984dup (PTEN) | NP_000305.3:n.-994_-984dup | |
| NM_001304717.2:c.-475_-465dup (PTEN) | NP_001291646.2:n.-475_-465dup | |
| NM_001304718.1:c.-1699_-1689dup (PTEN) | NP_001291647.1:n.-1699_-1689dup | |
| NM_001126049.2:c.-995_-985dup (KLLN) MANE Select | NP_001119521.1:n.-995_-985dup |