Canonical Allele Identifier: CA2575266860
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843759del , CM000674.2:g.102843759del GRCh38
NC_000012.11:g.103237537del , CM000674.1:g.103237537del GRCh37
NC_000012.10:g.101761667del NCBI36
NG_008690.1:g.78846del
NG_008690.2:g.119654del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1088del MANE Select ENSP00000448059.1:p.Lys363SerfsTer?
ENST00000307000.7:c.1073del ENSP00000303500.2:p.Lys358SerfsTer?
ENST00000549247.6:n.847del
ENST00000551114.2:n.750del
ENST00000553106.5:c.1088del ENSP00000448059.1:p.Lys363SerfsTer?
ENST00000635477.1:c.192del
ENST00000635528.1:n.603del
NM_000277.1:c.1088del NP_000268.1:p.Lys363SerfsTer?
XM_011538422.1:c.1031del XP_011536724.1:p.Lys344SerfsTer?
NM_000277.2:c.1088del NP_000268.1:p.Lys363SerfsTer?
NM_001354304.1:c.1088del NP_001341233.1:p.Lys363SerfsTer?
NM_000277.3:c.1088del MANE Select NP_000268.1:p.Lys363SerfsTer?
NM_001354304.2:c.1088del NP_001341233.1:p.Lys363SerfsTer?
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