ClinGen Evidence Repository:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855294del , CM000674.2:g.102855294del | GRCh38 |
| NC_000012.11:g.103249072del , CM000674.1:g.103249072del | GRCh37 |
| NC_000012.10:g.101773202del | NCBI36 |
| NG_008690.1:g.67312del | |
| NG_008690.2:g.108120del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.551del MANE Select | ENSP00000448059.1:p.Lys184ArgfsTer11 | |
| ENST00000307000.7:c.536del | ENSP00000303500.2:p.Lys179ArgfsTer11 | |
| ENST00000549111.5:n.647del | ||
| ENST00000551988.5:n.572del | ||
| ENST00000553106.5:c.551del | ENSP00000448059.1:p.Lys184ArgfsTer11 | |
| NM_000277.1:c.551del | NP_000268.1:p.Lys184ArgfsTer11 | |
| XM_011538422.1:c.551del | XP_011536724.1:p.Lys184ArgfsTer11 | |
| NM_000277.2:c.551del | NP_000268.1:p.Lys184ArgfsTer11 | |
| NM_001354304.1:c.551del | NP_001341233.1:p.Lys184ArgfsTer11 | |
| XM_017019370.2:c.551del | XP_016874859.1:p.Lys184ArgfsTer11 | |
| NM_000277.3:c.551del MANE Select | NP_000268.1:p.Lys184ArgfsTer11 | |
| NM_001354304.2:c.551del | NP_001341233.1:p.Lys184ArgfsTer11 |