Canonical Allele Identifier: CA2575266712
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840389_102840391del , CM000674.2:g.102840389_102840391del GRCh38
NC_000012.11:g.103234167_103234169del , CM000674.1:g.103234167_103234169del GRCh37
NC_000012.10:g.101758297_101758299del NCBI36
NG_008690.1:g.82212_82214del
NG_008690.2:g.123020_123022del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+9_1315+11del MANE Select ENSP00000448059.1:n.1315+9_1315+11del
ENST00000307000.7:c.1300+9_1300+11del ENSP00000303500.2:n.1300+9_1300+11del
ENST00000551114.2:n.977+9_977+11del
ENST00000553106.5:c.1315+9_1315+11del ENSP00000448059.1:n.1315+9_1315+11del
ENST00000635477.1:c.419+9_419+11del
ENST00000635528.1:n.830+9_830+11del
NM_000277.1:c.1315+9_1315+11del NP_000268.1:n.1315+9_1315+11del
XM_011538422.1:c.1258+9_1258+11del XP_011536724.1:n.1258+9_1258+11del
NM_000277.2:c.1315+9_1315+11del NP_000268.1:n.1315+9_1315+11del
NM_001354304.1:c.1315+9_1315+11del NP_001341233.1:n.1315+9_1315+11del
NM_000277.3:c.1315+9_1315+11del MANE Select NP_000268.1:n.1315+9_1315+11del
NM_001354304.2:c.1315+9_1315+11del NP_001341233.1:n.1315+9_1315+11del
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