Linked Data
ClinVar Variation Id:
1929516
dbSNP Id:
rs1009828411
gnomAD v3:
17-76540523-T-TGGGGCAGCTA
gnomAD v4:
17-76540523-T-TGGGGCAGCTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76540532_76540541dup , CM000679.2:g.76540532_76540541dup | GRCh38 |
| NC_000017.10:g.74536614_74536623dup , CM000679.1:g.74536614_74536623dup | GRCh37 |
| NC_000017.9:g.72048209_72048218dup | NCBI36 |
| NG_016702.1:g.17947_17956dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592014.6:c.102_111dup (PRCD) MANE Select | ENSP00000467661.1:p.Ser38Ter | |
| ENST00000397630.7:n.62_71dup (PRCD) | ||
| ENST00000397633.7:n.73_82dup (PRCD) | ||
| ENST00000465808.7:n.120_129dup (PRCD) | ||
| ENST00000586148.1:c.102_111dup (PRCD) | ENSP00000465932.1:p.Ser38Ter | |
| ENST00000589145.1:c.-52-8842_-52-8833dup (CYGB) | ENSP00000468559.1:n.-52-8842_-52-8833dup | |
| ENST00000590555.5:n.472_481dup (PRCD) | ||
| ENST00000592014.5:c.102_111dup (PRCD) | ENSP00000467661.1:p.Ser38Ter | |
| ENST00000592432.5:n.276_285dup (PRCD) | ||
| NM_001077620.2:c.102_111dup (PRCD) | NP_001071088.1:p.Ser38Ter | |
| NR_033357.1:n.276_285dup (PRCD) | ||
| XM_011524272.1:c.-52-8842_-52-8833dup (CYGB) | XP_011522574.1:n.-52-8842_-52-8833dup | |
| XM_011525184.1:c.225_234dup (PRCD) | XP_011523486.1:p.Ser79Ter | |
| XM_017024116.1:c.-52-8842_-52-8833dup (CYGB) | XP_016879605.1:n.-52-8842_-52-8833dup | |
| XM_017025013.1:c.102_111dup (PRCD) | XP_016880502.1:p.Ser38Ter | |
| XM_017025014.1:c.102_111dup (PRCD) | XP_016880503.1:p.Ser38Ter | |
| XM_017025015.1:c.102_111dup (PRCD) | XP_016880504.1:p.Ser38Ter | |
| NM_001077620.3:c.102_111dup (PRCD) MANE Select | NP_001071088.1:p.Ser38Ter | |
| NR_033357.2:n.276_285dup (PRCD) |