This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2979027236
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843556del , CM000674.2:g.102843556del GRCh38
NC_000012.11:g.103237334del , CM000674.1:g.103237334del GRCh37
NC_000012.10:g.101761464del NCBI36
NG_008690.1:g.79048del
NG_008690.2:g.119856del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+91del MANE Select ENSP00000448059.1:n.1199+91del
ENST00000307000.7:c.1184+91del ENSP00000303500.2:n.1184+91del
ENST00000549247.6:n.958+91del
ENST00000551114.2:n.861+91del
ENST00000553106.5:c.1199+91del ENSP00000448059.1:n.1199+91del
ENST00000635477.1:c.303+91del
ENST00000635528.1:n.714+91del
NM_000277.1:c.1199+91del NP_000268.1:n.1199+91del
XM_011538422.1:c.1142+91del XP_011536724.1:n.1142+91del
NM_000277.2:c.1199+91del NP_000268.1:n.1199+91del
NM_001354304.1:c.1199+91del NP_001341233.1:n.1199+91del
NM_000277.3:c.1199+91del MANE Select NP_000268.1:n.1199+91del
NM_001354304.2:c.1199+91del NP_001341233.1:n.1199+91del
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