Linked Data
dbSNP Id:
rs1217988350
gnomAD v2:
6-31143631-TAAG-T
gnomAD v3:
6-31175854-TAAG-T
gnomAD v4:
6-31175854-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175858_31175860del , CM000668.2:g.31175858_31175860del | GRCh38 |
| NC_000006.11:g.31143635_31143637del , CM000668.1:g.31143635_31143637del | GRCh37 |
| NC_000006.10:g.31251614_31251616del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4762_-184+4764del (POU5F1) | ENSP00000389359.2:n.-184+4762_-184+4764de... | |
| NR_026816.1:n.262-1587_262-1585del (PSORS1C3) | ||
| NR_026816.2:n.554-1587_554-1585del (PSORS1C3) | ||
| NR_152828.1:n.554-1031_554-1029del (PSORS1C3) | ||
| NR_152829.1:n.652_654del (PSORS1C3) | ||
| NR_152830.1:n.554-1301_554-1299del (PSORS1C3) | ||
| NR_152831.1:n.293-1587_293-1585del (PSORS1C3) | ||
| NR_152832.1:n.414-1587_414-1585del (PSORS1C3) | ||
| NR_152833.1:n.554-1031_554-1029del (PSORS1C3) | ||
| NR_152834.1:n.652_654del (PSORS1C3) | ||
| NR_152835.1:n.293-1824_293-1822del (PSORS1C3) | ||
| NR_152836.1:n.554-1301_554-1299del (PSORS1C3) | ||
| NR_152837.1:n.554-1178_554-1176del (PSORS1C3) | ||
| NR_152838.1:n.652_654del (PSORS1C3) | ||
| NR_152839.1:n.553+1782_553+1784del (PSORS1C3) |