Linked Data
dbSNP Id:
rs1858324707
gnomAD v3:
10-87863380-GCGCTCGCACCCAGAGCTAC-G
gnomAD v4:
10-87863380-GCGCTCGCACCCAGAGCTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863386_87863404del , CM000672.2:g.87863386_87863404del | GRCh38 |
| NC_000010.10:g.89623143_89623161del , CM000672.1:g.89623143_89623161del | GRCh37 |
| NC_000010.9:g.89613123_89613141del | NCBI36 |
| NG_007466.2:g.4949_4967del , LRG_311:g.4949_4967del | |
| NG_033079.1:g.5039_5057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+744_-17+762del (PTEN) | ENSP00000516674.1:n.-17+744_-17+762del | |
| ENST00000688308.1:c.-17+273_-17+291del (PTEN) | ENSP00000508752.1:n.-17+273_-17+291del | |
| ENST00000445946.5:c.-912_-894del (KLLN) MANE Select | ENSP00000392204.2:n.-912_-894del | |
| ENST00000371953.7:c.-1084_-1066del (PTEN) | ENSP00000361021.3:n.-1084_-1066del | |
| ENST00000445946.3:c.-912_-894del (KLLN) | ENSP00000392204.2:n.-912_-894del | |
| NM_001126049.1:c.-912_-894del (KLLN) | NP_001119521.1:n.-912_-894del | |
| NM_001126049.2:c.-912_-894del (KLLN) MANE Select | NP_001119521.1:n.-912_-894del |