Linked Data
ClinVar Variation Id:
220868
dbSNP Id:
rs751527253
ExAC:
3:132408107 CCT / C
gnomAD v2:
3-132408107-CCT-C
gnomAD v3:
3-132689263-CCT-C
gnomAD v4:
3-132689263-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132689264_132689265del , CM000665.2:g.132689264_132689265del | GRCh38 |
| NC_000003.11:g.132408108_132408109del , CM000665.1:g.132408108_132408109del | GRCh37 |
| NC_000003.10:g.133890798_133890799del | NCBI36 |
| NG_008130.1:g.38168_38169del | |
| NG_008130.2:g.38168_38169del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684294.1:c.*602-2_*602-1del (NPHP3) | ENSP00000508078.1:n.*602-2_*602-1del | |
| ENST00000337331.10:c.2694-2_2694-1del (NPHP3) MANE Select | ENSP00000338766.5:n.2694-2_2694-1del | |
| ENST00000337331.9:c.2694-2_2694-1del (NPHP3) | ENSP00000338766.5:n.2694-2_2694-1del | |
| ENST00000465756.5:c.*602-2_*602-1del (NPHP3) | ENSP00000419907.1:n.*602-2_*602-1del | |
| ENST00000471702.2:c.*685-2_*685-1del (NPHP3-ACAD11) | ENSP00000419763.1:n.*685-2_*685-1del | |
| ENST00000474871.5:n.428-2_428-1del (NPHP3) | ||
| ENST00000490993.5:n.3419-2_3419-1del (NPHP3) | ||
| NM_153240.4:c.2694-2_2694-1del (NPHP3) | NP_694972.3:n.2694-2_2694-1del | |
| NR_037804.1:n.2700-2_2700-1del (NPHP3-ACAD11) | ||
| NM_153240.5:c.2694-2_2694-1del (NPHP3) MANE Select | NP_694972.3:n.2694-2_2694-1del |