Canonical Allele Identifier: CA16020740
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894901_102894905del , CM000674.2:g.102894901_102894905del GRCh38
NC_000012.11:g.103288679_103288683del , CM000674.1:g.103288679_103288683del GRCh37
NC_000012.10:g.101812809_101812813del NCBI36
NG_008690.1:g.27701_27705del
NG_008690.2:g.68509_68513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.185_189del MANE Select ENSP00000448059.1:p.Leu62ProfsTer3
ENST00000307000.7:c.170_174del ENSP00000303500.2:p.Leu57ProfsTer3
ENST00000546844.1:c.185_189del ENSP00000446658.1:p.Leu62ProfsTer3
ENST00000548677.2:n.272_276del
ENST00000548928.1:n.107_111del
ENST00000549111.5:n.281_285del
ENST00000550978.6:c.169_173del
ENST00000551337.5:c.185_189del ENSP00000447620.1:p.Leu62ProfsTer3
ENST00000551988.5:n.274_278del
ENST00000553106.5:c.185_189del ENSP00000448059.1:p.Leu62ProfsTer3
ENST00000635500.1:n.153_157del
NM_000277.1:c.185_189del NP_000268.1:p.Leu62ProfsTer3
XM_011538422.1:c.185_189del XP_011536724.1:p.Leu62ProfsTer3
NM_000277.2:c.185_189del NP_000268.1:p.Leu62ProfsTer3
NM_001354304.1:c.185_189del NP_001341233.1:p.Leu62ProfsTer3
XM_017019370.2:c.185_189del XP_016874859.1:p.Leu62ProfsTer3
NM_000277.3:c.185_189del MANE Select NP_000268.1:p.Leu62ProfsTer3
NM_001354304.2:c.185_189del NP_001341233.1:p.Leu62ProfsTer3
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