Linked Data
ClinVar Variation Id:
193505
dbSNP Id:
rs758558609
ExAC:
3:132440926 CG / C
gnomAD v2:
3-132440926-CG-C
gnomAD v4:
3-132722082-CG-C
MyVariant Identifiers:
chr3:g.132440927del (hg19)
chr3:g.132440927delG (hg19)
chr3:g.132722083del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132722083del , CM000665.2:g.132722083del | GRCh38 |
| NC_000003.11:g.132440927del , CM000665.1:g.132440927del | GRCh37 |
| NC_000003.10:g.133923617del | NCBI36 |
| NG_008130.1:g.5350del | |
| NG_008130.2:g.5350del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683570.1:c.273del (NPHP3) | ENSP00000508409.1:p.Tyr91Ter | |
| ENST00000684294.1:c.99+174del (NPHP3) | ENSP00000508078.1:n.99+174del | |
| ENST00000337331.10:c.273del (NPHP3) MANE Select | ENSP00000338766.5:p.Tyr91Ter | |
| ENST00000337331.9:c.273del (NPHP3) | ENSP00000338766.5:p.Tyr91Ter | |
| ENST00000383282.3:c.273del (NPHP3-ACAD11) | ENSP00000372769.2:p.Tyr91Ter | |
| ENST00000465756.5:c.99+174del (NPHP3) | ENSP00000419907.1:n.99+174del | |
| ENST00000471702.2:c.273del (NPHP3-ACAD11) | ENSP00000419763.1:p.Tyr91Ter | |
| NM_153240.4:c.273del (NPHP3) | NP_694972.3:p.Tyr91Ter | |
| NR_037804.1:n.377del (NPHP3-ACAD11) | ||
| NR_002811.2:n.334del (NPHP3-AS1) | ||
| NR_152743.1:n.334del (NPHP3-AS1) | ||
| NM_153240.5:c.273del (NPHP3) MANE Select | NP_694972.3:p.Tyr91Ter |