Linked Data
dbSNP Id:
rs764872164
ExAC:
22:18900780 GGCT / G
gnomAD v2:
22-18900780-GGCT-G
gnomAD v4:
22-18913267-GGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18913272_18913274del , CM000684.2:g.18913272_18913274del | GRCh38 |
| NC_000022.10:g.18900785_18900787del , CM000684.1:g.18900785_18900787del | GRCh37 |
| NC_000022.9:g.17280785_17280787del | NCBI36 |
| NG_008226.2:g.28284_28286del | |
| NG_009052.1:g.12050_12052del | |
| NG_008226.3:g.28284_28286del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1708_1710del (PRODH) MANE Select | ENSP00000349577.6:p.Ser570del | |
| ENST00000638240.1:c.513+2244_513+2246del | ENSP00000492446.1:n.513+2244_513+2246del | |
| ENST00000313755.9:n.2473_2475del (PRODH) | ||
| ENST00000334029.6:c.1384_1386del (PRODH) | ENSP00000334726.2:p.Ser462del | |
| ENST00000357068.10:c.1708_1710del (PRODH) | ENSP00000349577.6:p.Ser570del | |
| ENST00000420436.5:c.1384_1386del (PRODH) | ENSP00000410805.1:p.Ser462del | |
| ENST00000429300.5:n.2079_2081del (PRODH) | ||
| ENST00000482858.5:n.4188_4190del (PRODH) | ||
| ENST00000483718.5:c.*1914_*1916del (DGCR6) | ENSP00000467483.1:n.*1914_*1916del | |
| ENST00000491604.5:n.2617_2619del (PRODH) | ||
| ENST00000610940.4:c.1708_1710del (PRODH) | ENSP00000480347.1:p.Ser570del | |
| NM_001195226.1:c.1384_1386del (PRODH) | NP_001182155.1:p.Ser462del | |
| NM_016335.4:c.1708_1710del (PRODH) | NP_057419.4:p.Ser570del | |
| XM_011530278.1:c.1135_1137del (PRODH) | XP_011528580.1:p.Ser379del | |
| XM_011530279.1:c.928_930del (PRODH) | XP_011528581.1:p.Ser310del | |
| XR_937876.1:n.1775_1777del (PRODH) | ||
| NM_005675.5:c.*1583_*1585del (DGCR6) | NP_005666.2:n.*1583_*1585del | |
| NM_001195226.2:c.1384_1386del (PRODH) | NP_001182155.2:p.Ser462del | |
| NM_016335.5:c.1708_1710del (PRODH) | NP_057419.5:p.Ser570del | |
| NM_016335.6:c.1708_1710del (PRODH) MANE Select | NP_057419.5:p.Ser570del |