Linked Data
ClinVar Variation Id:
1427185
ClinVar RCV Id:
RCV001933580
dbSNP Id:
rs1009828411
gnomAD v2:
17-74536605-TGGGGCAGCTA-T
gnomAD v4:
17-76540523-TGGGGCAGCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76540532_76540541del , CM000679.2:g.76540532_76540541del | GRCh38 |
| NC_000017.10:g.74536614_74536623del , CM000679.1:g.74536614_74536623del | GRCh37 |
| NC_000017.9:g.72048209_72048218del | NCBI36 |
| NG_016702.1:g.17947_17956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592014.6:c.102_111del (PRCD) MANE Select | ENSP00000467661.1:p.Arg35AlafsTer16 | |
| ENST00000397630.7:n.62_71del (PRCD) | ||
| ENST00000397633.7:n.73_82del (PRCD) | ||
| ENST00000465808.7:n.120_129del (PRCD) | ||
| ENST00000586148.1:c.102_111del (PRCD) | ENSP00000465932.1:p.Arg35AlafsTer16 | |
| ENST00000589145.1:c.-52-8842_-52-8833del (CYGB) | ENSP00000468559.1:n.-52-8842_-52-8833del | |
| ENST00000590555.5:n.472_481del (PRCD) | ||
| ENST00000592014.5:c.102_111del (PRCD) | ENSP00000467661.1:p.Arg35AlafsTer16 | |
| ENST00000592432.5:n.276_285del (PRCD) | ||
| NM_001077620.2:c.102_111del (PRCD) | NP_001071088.1:p.Arg35AlafsTer16 | |
| NR_033357.1:n.276_285del (PRCD) | ||
| XM_011524272.1:c.-52-8842_-52-8833del (CYGB) | XP_011522574.1:n.-52-8842_-52-8833del | |
| XM_011525184.1:c.225_234del (PRCD) | XP_011523486.1:p.Arg76AlafsTer16 | |
| XM_017024116.1:c.-52-8842_-52-8833del (CYGB) | XP_016879605.1:n.-52-8842_-52-8833del | |
| XM_017025013.1:c.102_111del (PRCD) | XP_016880502.1:p.Arg35AlafsTer16 | |
| XM_017025014.1:c.102_111del (PRCD) | XP_016880503.1:p.Arg35AlafsTer16 | |
| XM_017025015.1:c.102_111del (PRCD) | XP_016880504.1:p.Arg35AlafsTer16 | |
| NM_001077620.3:c.102_111del (PRCD) MANE Select | NP_001071088.1:p.Arg35AlafsTer16 | |
| NR_033357.2:n.276_285del (PRCD) |