ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840516del , CM000674.2:g.102840516del | GRCh38 |
| NC_000012.11:g.103234294del , CM000674.1:g.103234294del | GRCh37 |
| NC_000012.10:g.101758424del | NCBI36 |
| NG_008690.1:g.82088del | |
| NG_008690.2:g.122896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1200del | ||
| ENST00000307000.7:c.1185del | ||
| ENST00000549247.6:n.959del | ||
| ENST00000551114.2:n.862del | ||
| ENST00000553106.5:c.1200del | ||
| ENST00000635477.1:c.304del | ||
| ENST00000635528.1:n.715del | ||
| NM_000277.1:c.1200del | ||
| XM_011538422.1:c.1143del | ||
| NM_000277.2:c.1200del | ||
| NM_001354304.1:c.1200del | ||
| NM_000277.3:c.1200del | ||
| NM_001354304.2:c.1200del |