Canonical Allele Identifier: CA2059476263
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917281_102917282delinsAG , CM000674.2:g.102917281_102917282delinsAG GRCh38
NC_000012.11:g.103311059_103311060delinsAG , CM000674.1:g.103311059_103311060delinsAG GRCh37
NC_000012.10:g.101835189_101835190delinsAG NCBI36
NG_008690.1:g.5321_5322delinsCT
NG_008690.2:g.46129_46130delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-57_493-56delinsCT
ENST00000546844.1:c.-95-57_-95-56delinsCT ENSP00000446658.1:n.-95-57_-95-56delinsCT
ENST00000547319.1:n.217-57_217-56delinsCT
ENST00000551337.5:c.-95-57_-95-56delinsCT ENSP00000447620.1:n.-95-57_-95-56delinsCT
ENST00000553106.5:c.-152_-151delinsCT ENSP00000448059.1:n.-152_-151delinsCT
ENST00000635500.1:n.29-4384_29-4383delinsCT
NM_000277.1:c.-152_-151delinsCT NP_000268.1:n.-152_-151delinsCT
NM_000277.2:c.-152_-151delinsCT NP_000268.1:n.-152_-151delinsCT
NM_001354304.1:c.-95-57_-95-56delinsCT NP_001341233.1:n.-95-57_-95-56delinsCT
NM_001354304.2:c.-95-57_-95-56delinsCT NP_001341233.1:n.-95-57_-95-56delinsCT
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