Linked Data
dbSNP Id:
rs119456959
ExAC:
3:132400920 TCTC / T
gnomAD v2:
3-132400920-TCTC-T
gnomAD v4:
3-132682076-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132682082_132682084del , CM000665.2:g.132682082_132682084del | GRCh38 |
| NC_000003.11:g.132400926_132400928del , CM000665.1:g.132400926_132400928del | GRCh37 |
| NC_000003.10:g.133883616_133883618del | NCBI36 |
| NG_008130.1:g.45354_45356del | |
| NG_008130.2:g.45354_45356del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684294.1:c.*1752_*1754del (NPHP3) | ENSP00000508078.1:n.*1752_*1754del | |
| ENST00000337331.10:c.3824_3826del (NPHP3) MANE Select | ENSP00000338766.5:p.Gly1275del | |
| ENST00000337331.9:c.3824_3826del (NPHP3) | ENSP00000338766.5:p.Gly1275del | |
| ENST00000465756.5:c.*1732_*1734del (NPHP3) | ENSP00000419907.1:n.*1732_*1734del | |
| ENST00000471702.2:c.*1815_*1817del (NPHP3-ACAD11) | ENSP00000419763.1:n.*1815_*1817del | |
| ENST00000474871.5:n.3023_3025del (NPHP3) | ||
| ENST00000490993.5:n.4549_4551del (NPHP3) | ||
| ENST00000493732.5:n.1136_1138del (NPHP3) | ||
| ENST00000512094.5:c.270_272del (NPHP3) | ENSP00000427666.1:n.270_272del | |
| ENST00000632629.1:c.471_473del (NPHP3-ACAD11) | ||
| NM_153240.4:c.3824_3826del (NPHP3) | NP_694972.3:p.Gly1275del | |
| NR_037804.1:n.3830_3832del (NPHP3-ACAD11) | ||
| NM_153240.5:c.3824_3826del (NPHP3) MANE Select | NP_694972.3:p.Gly1275del |