Canonical Allele Identifier: CA2797242239
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894997_102894998insCAC , CM000674.2:g.102894997_102894998insCAC GRCh38
NC_000012.11:g.103288775_103288776insCAC , CM000674.1:g.103288775_103288776insCAC GRCh37
NC_000012.10:g.101812905_101812906insCAC NCBI36
NG_008690.1:g.27605_27606insGTG
NG_008690.2:g.68413_68414insGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-80_169-79insGTG MANE Select ENSP00000448059.1:n.169-80_169-79insGTG
ENST00000307000.7:c.154-80_154-79insGTG ENSP00000303500.2:n.154-80_154-79insGTG
ENST00000546844.1:c.169-80_169-79insGTG ENSP00000446658.1:n.169-80_169-79insGTG
ENST00000548677.2:n.256-80_256-79insGTG
ENST00000548928.1:n.91-80_91-79insGTG
ENST00000549111.5:n.265-80_265-79insGTG
ENST00000550978.6:c.153-80_153-79insGTG
ENST00000551337.5:c.169-80_169-79insGTG ENSP00000447620.1:n.169-80_169-79insGTG
ENST00000551988.5:n.258-80_258-79insGTG
ENST00000553106.5:c.169-80_169-79insGTG ENSP00000448059.1:n.169-80_169-79insGTG
ENST00000635500.1:n.137-80_137-79insGTG
NM_000277.1:c.169-80_169-79insGTG NP_000268.1:n.169-80_169-79insGTG
XM_011538422.1:c.169-80_169-79insGTG XP_011536724.1:n.169-80_169-79insGTG
NM_000277.2:c.169-80_169-79insGTG NP_000268.1:n.169-80_169-79insGTG
NM_001354304.1:c.169-80_169-79insGTG NP_001341233.1:n.169-80_169-79insGTG
XM_017019370.2:c.169-80_169-79insGTG XP_016874859.1:n.169-80_169-79insGTG
NM_000277.3:c.169-80_169-79insGTG MANE Select NP_000268.1:n.169-80_169-79insGTG
NM_001354304.2:c.169-80_169-79insGTG NP_001341233.1:n.169-80_169-79insGTG
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