Linked Data
dbSNP Id:
rs1018520104
gnomAD v2:
22-18900649-GGCGGGGGGTGCTGGAGGCTAAGGGTGT-G
gnomAD v4:
22-18913136-GGCGGGGGGTGCTGGAGGCTAAGGGTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913139_18913165del , CM000684.2:g.18913139_18913165del | GRCh38 |
| NC_000022.10:g.18900652_18900678del , CM000684.1:g.18900652_18900678del | GRCh37 |
| NC_000022.9:g.17280652_17280678del | NCBI36 |
| NG_008226.2:g.28391_28417del | |
| NG_009052.1:g.11917_11943del | |
| NG_008226.3:g.28391_28417del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.*12_*38del (PRODH) MANE Select | ENSP00000349577.6:n.*12_*38del | |
| ENST00000638240.1:c.513+2111_513+2137del | ENSP00000492446.1:n.513+2111_513+2137del | |
| ENST00000313755.9:n.2580_2606del (PRODH) | ||
| ENST00000334029.6:c.*12_*38del (PRODH) | ENSP00000334726.2:n.*12_*38del | |
| ENST00000357068.10:c.*12_*38del (PRODH) | ENSP00000349577.6:n.*12_*38del | |
| ENST00000420436.5:c.*12_*38del (PRODH) | ENSP00000410805.1:n.*12_*38del | |
| ENST00000429300.5:n.2186_2212del (PRODH) | ||
| ENST00000482858.5:n.4295_4321del (PRODH) | ||
| ENST00000483718.5:c.*1781_*1807del (DGCR6) | ENSP00000467483.1:n.*1781_*1807del | |
| ENST00000491604.5:n.2724_2750del (PRODH) | ||
| ENST00000610940.4:c.*12_*38del (PRODH) | ENSP00000480347.1:n.*12_*38del | |
| NM_001195226.1:c.*12_*38del (PRODH) | NP_001182155.1:n.*12_*38del | |
| NM_016335.4:c.*12_*38del (PRODH) | NP_057419.4:n.*12_*38del | |
| XM_011530278.1:c.*12_*38del (PRODH) | XP_011528580.1:n.*12_*38del | |
| XM_011530279.1:c.*12_*38del (PRODH) | XP_011528581.1:n.*12_*38del | |
| XR_937876.1:n.1882_1908del (PRODH) | ||
| NM_005675.5:c.*1450_*1476del (DGCR6) | NP_005666.2:n.*1450_*1476del | |
| NM_001195226.2:c.*12_*38del (PRODH) | NP_001182155.2:n.*12_*38del | |
| NM_016335.5:c.*12_*38del (PRODH) | NP_057419.5:n.*12_*38del | |
| NM_016335.6:c.*12_*38del (PRODH) MANE Select | NP_057419.5:n.*12_*38del |