Linked Data
dbSNP Id:
rs1777966989
gnomAD v3:
6-31175702-GGTGGGCC-G
gnomAD v4:
6-31175702-GGTGGGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175707_31175713del , CM000668.2:g.31175707_31175713del | GRCh38 |
| NC_000006.11:g.31143484_31143490del , CM000668.1:g.31143484_31143490del | GRCh37 |
| NC_000006.10:g.31251463_31251469del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4910_-184+4916del (POU5F1) | ENSP00000389359.2:n.-184+4910_-184+4916de... | |
| NR_026816.1:n.262-1439_262-1433del (PSORS1C3) | ||
| NR_026816.2:n.554-1439_554-1433del (PSORS1C3) | ||
| NR_152828.1:n.554-883_554-877del (PSORS1C3) | ||
| NR_152829.1:n.800_806del (PSORS1C3) | ||
| NR_152830.1:n.554-1153_554-1147del (PSORS1C3) | ||
| NR_152831.1:n.293-1439_293-1433del (PSORS1C3) | ||
| NR_152832.1:n.414-1439_414-1433del (PSORS1C3) | ||
| NR_152833.1:n.554-883_554-877del (PSORS1C3) | ||
| NR_152834.1:n.800_806del (PSORS1C3) | ||
| NR_152835.1:n.293-1676_293-1670del (PSORS1C3) | ||
| NR_152836.1:n.554-1153_554-1147del (PSORS1C3) | ||
| NR_152837.1:n.554-1030_554-1024del (PSORS1C3) | ||
| NR_152838.1:n.800_806del (PSORS1C3) | ||
| NR_152839.1:n.554-1676_554-1670del (PSORS1C3) |