Canonical Allele Identifier: CA3045950919
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840331_102840337del , CM000674.2:g.102840331_102840337del GRCh38
NC_000012.11:g.103234109_103234115del , CM000674.1:g.103234109_103234115del GRCh37
NC_000012.10:g.101758239_101758245del NCBI36
NG_008690.1:g.82266_82272del
NG_008690.2:g.123074_123080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1315+63_1315+69del MANE Select ENSP00000448059.1:n.1315+63_1315+69del
ENST00000307000.7:c.1300+63_1300+69del ENSP00000303500.2:n.1300+63_1300+69del
ENST00000551114.2:n.977+63_977+69del
ENST00000553106.5:c.1315+63_1315+69del ENSP00000448059.1:n.1315+63_1315+69del
ENST00000635477.1:c.419+63_419+69del
ENST00000635528.1:n.830+63_830+69del
NM_000277.1:c.1315+63_1315+69del NP_000268.1:n.1315+63_1315+69del
XM_011538422.1:c.1258+63_1258+69del XP_011536724.1:n.1258+63_1258+69del
NM_000277.2:c.1315+63_1315+69del NP_000268.1:n.1315+63_1315+69del
NM_001354304.1:c.1315+63_1315+69del NP_001341233.1:n.1315+63_1315+69del
NM_000277.3:c.1315+63_1315+69del MANE Select NP_000268.1:n.1315+63_1315+69del
NM_001354304.2:c.1315+63_1315+69del NP_001341233.1:n.1315+63_1315+69del
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