ClinGen Evidence Repository:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
MyVariant.info:
GRCh38
chr12:g.102866602del
GRCh37
chr12:g.103260380del
GRCh37
chr12:g.103260380delT
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866602del , CM000674.2:g.102866602del | GRCh38 |
| NC_000012.11:g.103260380del , CM000674.1:g.103260380del | GRCh37 |
| NC_000012.10:g.101784510del | NCBI36 |
| NG_008690.1:g.56001del | |
| NG_008690.2:g.96809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.503del MANE Select | ENSP00000448059.1:p.Tyr168SerfsTer27 | |
| ENST00000307000.7:c.488del | ENSP00000303500.2:p.Tyr163SerfsTer27 | |
| ENST00000549111.5:n.599del | ||
| ENST00000551988.5:n.530+10860del | ||
| ENST00000553106.5:c.503del | ENSP00000448059.1:p.Tyr168SerfsTer27 | |
| NM_000277.1:c.503del | NP_000268.1:p.Tyr168SerfsTer27 | |
| XM_011538422.1:c.503del | XP_011536724.1:p.Tyr168SerfsTer27 | |
| NM_000277.2:c.503del | NP_000268.1:p.Tyr168SerfsTer27 | |
| NM_001354304.1:c.503del | NP_001341233.1:p.Tyr168SerfsTer27 | |
| XM_017019370.2:c.503del | XP_016874859.1:p.Tyr168SerfsTer27 | |
| NM_000277.3:c.503del MANE Select | NP_000268.1:p.Tyr168SerfsTer27 | |
| NM_001354304.2:c.503del | NP_001341233.1:p.Tyr168SerfsTer27 |