Canonical Allele Identifier: CA2695217171
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894876_102894878del , CM000674.2:g.102894876_102894878del GRCh38
NC_000012.11:g.103288654_103288656del , CM000674.1:g.103288654_103288656del GRCh37
NC_000012.10:g.101812784_101812786del NCBI36
NG_008690.1:g.27725_27727del
NG_008690.2:g.68533_68535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.209_211del MANE Select ENSP00000448059.1:p.Ser70_Arg71delinsCys
ENST00000307000.7:c.194_196del ENSP00000303500.2:p.Ser65_Arg66delinsCys
ENST00000546844.1:c.209_211del ENSP00000446658.1:p.Ser70_Arg71delinsCys
ENST00000548677.2:n.296_298del
ENST00000548928.1:n.131_133del
ENST00000549111.5:n.305_307del
ENST00000550978.6:c.193_195del
ENST00000551337.5:c.209_211del ENSP00000447620.1:p.Ser70_Arg71delinsCys
ENST00000551988.5:n.298_300del
ENST00000553106.5:c.209_211del ENSP00000448059.1:p.Ser70_Arg71delinsCys
ENST00000635500.1:n.177_179del
NM_000277.1:c.209_211del NP_000268.1:p.Ser70_Arg71delinsCys
XM_011538422.1:c.209_211del XP_011536724.1:p.Ser70_Arg71delinsCys
NM_000277.2:c.209_211del NP_000268.1:p.Ser70_Arg71delinsCys
NM_001354304.1:c.209_211del NP_001341233.1:p.Ser70_Arg71delinsCys
XM_017019370.2:c.209_211del XP_016874859.1:p.Ser70_Arg71delinsCys
NM_000277.3:c.209_211del MANE Select NP_000268.1:p.Ser70_Arg71delinsCys
NM_001354304.2:c.209_211del NP_001341233.1:p.Ser70_Arg71delinsCys
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