ClinGen Classification:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
ClinVar Variation:
dbSNP:
MyVariant.info:
GRCh38
chr12:g.102843679del
GRCh37
chr12:g.103237457del
GRCh37
chr12:g.103237457delG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843679del , CM000674.2:g.102843679del | GRCh38 |
| NC_000012.11:g.103237457del , CM000674.1:g.103237457del | GRCh37 |
| NC_000012.10:g.101761587del | NCBI36 |
| NG_008690.1:g.78924del | |
| NG_008690.2:g.119732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1166del MANE Select | ENSP00000448059.1:p.Ala389GlufsTer11 | |
| ENST00000307000.7:c.1151del | ENSP00000303500.2:p.Ala384GlufsTer11 | |
| ENST00000549247.6:n.925del | ||
| ENST00000551114.2:n.828del | ||
| ENST00000553106.5:c.1166del | ENSP00000448059.1:p.Ala389GlufsTer11 | |
| ENST00000635477.1:c.270del | ||
| ENST00000635528.1:n.681del | ||
| NM_000277.1:c.1166del | NP_000268.1:p.Ala389GlufsTer11 | |
| XM_011538422.1:c.1109del | XP_011536724.1:p.Ala370GlufsTer11 | |
| NM_000277.2:c.1166del | NP_000268.1:p.Ala389GlufsTer11 | |
| NM_001354304.1:c.1166del | NP_001341233.1:p.Ala389GlufsTer11 | |
| NM_000277.3:c.1166del MANE Select | NP_000268.1:p.Ala389GlufsTer11 | |
| NM_001354304.2:c.1166del | NP_001341233.1:p.Ala389GlufsTer11 |