Canonical Allele Identifier: CA2575267217
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917188del , CM000674.2:g.102917188del GRCh38
NC_000012.11:g.103310966del , CM000674.1:g.103310966del GRCh37
NC_000012.10:g.101835096del NCBI36
NG_008690.1:g.5417del
NG_008690.2:g.46225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-56del MANE Select ENSP00000448059.1:n.-56del
ENST00000307000.7:c.-203del ENSP00000303500.2:n.-203del
ENST00000546708.5:n.532del
ENST00000546844.1:c.-56del ENSP00000446658.1:n.-56del
ENST00000547319.1:n.256del
ENST00000549111.5:n.41del
ENST00000551337.5:c.-56del ENSP00000447620.1:n.-56del
ENST00000551988.5:n.34del
ENST00000553106.5:c.-56del ENSP00000448059.1:n.-56del
ENST00000635500.1:n.29-4288del
NM_000277.1:c.-56del NP_000268.1:n.-56del
XM_011538422.1:c.-56del XP_011536724.1:n.-56del
NM_000277.2:c.-56del NP_000268.1:n.-56del
NM_001354304.1:c.-56del NP_001341233.1:n.-56del
XM_017019370.2:c.-56del XP_016874859.1:n.-56del
NM_000277.3:c.-56del MANE Select NP_000268.1:n.-56del
NM_001354304.2:c.-56del NP_001341233.1:n.-56del
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