Canonical Allele Identifier: CA2580085681
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2035540
ClinVar RCV Id: RCV002890100
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866610_102866613del , CM000674.2:g.102866610_102866613del GRCh38
NC_000012.11:g.103260388_103260391del , CM000674.1:g.103260388_103260391del GRCh37
NC_000012.10:g.101784518_101784521del NCBI36
NG_008690.1:g.55991_55994del
NG_008690.2:g.96799_96802del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.493_496del MANE Select ENSP00000448059.1:p.Ala165ThrfsTer29
ENST00000307000.7:c.478_481del ENSP00000303500.2:p.Ala160ThrfsTer29
ENST00000549111.5:n.589_592del
ENST00000551988.5:n.530+10850_530+10853del
ENST00000553106.5:c.493_496del ENSP00000448059.1:p.Ala165ThrfsTer29
NM_000277.1:c.493_496del NP_000268.1:p.Ala165ThrfsTer29
XM_011538422.1:c.493_496del XP_011536724.1:p.Ala165ThrfsTer29
NM_000277.2:c.493_496del NP_000268.1:p.Ala165ThrfsTer29
NM_001354304.1:c.493_496del NP_001341233.1:p.Ala165ThrfsTer29
XM_017019370.2:c.493_496del XP_016874859.1:p.Ala165ThrfsTer29
NM_000277.3:c.493_496del MANE Select NP_000268.1:p.Ala165ThrfsTer29
NM_001354304.2:c.493_496del NP_001341233.1:p.Ala165ThrfsTer29
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