Canonical Allele Identifier: CA3045950918
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840325_102840327del , CM000674.2:g.102840325_102840327del GRCh38
NC_000012.11:g.103234103_103234105del , CM000674.1:g.103234103_103234105del GRCh37
NC_000012.10:g.101758233_101758235del NCBI36
NG_008690.1:g.82276_82278del
NG_008690.2:g.123084_123086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1315+73_1315+75del MANE Select ENSP00000448059.1:n.1315+73_1315+75del
ENST00000307000.7:c.1300+73_1300+75del ENSP00000303500.2:n.1300+73_1300+75del
ENST00000551114.2:n.977+73_977+75del
ENST00000553106.5:c.1315+73_1315+75del ENSP00000448059.1:n.1315+73_1315+75del
ENST00000635477.1:c.419+73_419+75del
ENST00000635528.1:n.830+73_830+75del
NM_000277.1:c.1315+73_1315+75del NP_000268.1:n.1315+73_1315+75del
XM_011538422.1:c.1258+73_1258+75del XP_011536724.1:n.1258+73_1258+75del
NM_000277.2:c.1315+73_1315+75del NP_000268.1:n.1315+73_1315+75del
NM_001354304.1:c.1315+73_1315+75del NP_001341233.1:n.1315+73_1315+75del
NM_000277.3:c.1315+73_1315+75del MANE Select NP_000268.1:n.1315+73_1315+75del
NM_001354304.2:c.1315+73_1315+75del NP_001341233.1:n.1315+73_1315+75del
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