Linked Data
ClinVar Variation Id:
502325
dbSNP Id:
rs766573820
ExAC:
3:132441039 CCTG / C
gnomAD v2:
3-132441039-CCTG-C
gnomAD v3:
3-132722195-CCTG-C
gnomAD v4:
3-132722195-CCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132722200_132722202del , CM000665.2:g.132722200_132722202del | GRCh38 |
| NC_000003.11:g.132441044_132441046del , CM000665.1:g.132441044_132441046del | GRCh37 |
| NC_000003.10:g.133923734_133923736del | NCBI36 |
| NG_008130.1:g.5235_5237del | |
| NG_008130.2:g.5235_5237del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.158_160del (NPHP3) | ENSP00000508409.1:p.Ala53del | |
| ENST00000684294.1:c.99+59_99+61del (NPHP3) | ENSP00000508078.1:n.99+59_99+61del | |
| ENST00000337331.10:c.158_160del (NPHP3) MANE Select | ENSP00000338766.5:p.Ala53del | |
| ENST00000337331.9:c.158_160del (NPHP3) | ENSP00000338766.5:p.Ala53del | |
| ENST00000383282.3:c.158_160del (NPHP3-ACAD11) | ENSP00000372769.2:p.Ala53del | |
| ENST00000465756.5:c.99+59_99+61del (NPHP3) | ENSP00000419907.1:n.99+59_99+61del | |
| ENST00000471702.2:c.158_160del (NPHP3-ACAD11) | ENSP00000419763.1:p.Ala53del | |
| NM_153240.4:c.158_160del (NPHP3) | NP_694972.3:p.Ala53del | |
| NR_037804.1:n.262_264del (NPHP3-ACAD11) | ||
| NR_002811.2:n.451_453del (NPHP3-AS1) | ||
| NR_152743.1:n.451_453del (NPHP3-AS1) | ||
| NM_153240.5:c.158_160del (NPHP3) MANE Select | NP_694972.3:p.Ala53del |