ClinGen Evidence Repository:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844365del , CM000674.2:g.102844365del | GRCh38 |
| NC_000012.11:g.103238143del , CM000674.1:g.103238143del | GRCh37 |
| NC_000012.10:g.101762273del | NCBI36 |
| NG_008690.1:g.78240del | |
| NG_008690.2:g.119048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1038del MANE Select | ENSP00000448059.1:p.Leu347SerfsTer? | |
| ENST00000307000.7:c.1023del | ENSP00000303500.2:p.Leu342SerfsTer? | |
| ENST00000549247.6:n.797del | ||
| ENST00000551114.2:n.700del | ||
| ENST00000553106.5:c.1038del | ENSP00000448059.1:p.Leu347SerfsTer? | |
| ENST00000635477.1:c.142del | ||
| ENST00000635528.1:n.553del | ||
| NM_000277.1:c.1038del | NP_000268.1:p.Leu347SerfsTer? | |
| XM_011538422.1:c.981del | XP_011536724.1:p.Leu328SerfsTer? | |
| NM_000277.2:c.1038del | NP_000268.1:p.Leu347SerfsTer? | |
| NM_001354304.1:c.1038del | NP_001341233.1:p.Leu347SerfsTer? | |
| NM_000277.3:c.1038del MANE Select | NP_000268.1:p.Leu347SerfsTer? | |
| NM_001354304.2:c.1038del | NP_001341233.1:p.Leu347SerfsTer? |