gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.47932046dup , CM000669.2:g.47932046dup | GRCh38 |
| NC_000007.13:g.47971643dup , CM000669.1:g.47971643dup | GRCh37 |
| NC_000007.12:g.47938168dup | NCBI36 |
| NG_052801.1:g.31579dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685709.1:c.411dup (PKD1L1) | ENSP00000509540.1:p.Pro138ThrfsTer? | |
| ENST00000690269.1:c.411dup (PKD1L1) | ENSP00000510743.1:p.Pro138ThrfsTer? | |
| ENST00000289672.7:c.411dup (PKD1L1) MANE Select | ENSP00000289672.2:p.Pro138ThrfsTer? | |
| ENST00000289672.6:c.411dup (PKD1L1) | ENSP00000289672.2:p.Pro138ThrfsTer? | |
| ENST00000436444.5:c.*1170+32142dup (HUS1) | ENSP00000403844.1:n.*1170+32142dup | |
| NM_138295.3:c.411dup (PKD1L1) | NP_612152.1:p.Pro138ThrfsTer? | |
| XM_011515163.1:c.411dup (PKD1L1) | XP_011513465.1:p.Pro138ThrfsTer? | |
| NM_138295.4:c.411dup (PKD1L1) | NP_612152.1:p.Pro138ThrfsTer? | |
| XM_017011798.2:c.588dup (PKD1L1) | XP_016867287.1:p.Pro197ThrfsTer? | |
| NM_138295.5:c.411dup (PKD1L1) MANE Select | NP_612152.1:p.Pro138ThrfsTer? |