Canonical Allele Identifier: CA2059467464
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895128_102895130delinsCAG , CM000674.2:g.102895128_102895130delinsCAG GRCh38
NC_000012.11:g.103288906_103288908delinsCAG , CM000674.1:g.103288906_103288908delinsCAG GRCh37
NC_000012.10:g.101813036_101813038delinsCAG NCBI36
NG_008690.1:g.27473_27475delinsCTG
NG_008690.2:g.68281_68283delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-212_169-210delinsCTG MANE Select ENSP00000448059.1:n.169-212_169-210delinsCTG
ENST00000307000.7:c.154-212_154-210delinsCTG ENSP00000303500.2:n.154-212_154-210delinsCTG
ENST00000546844.1:c.169-212_169-210delinsCTG ENSP00000446658.1:n.169-212_169-210delinsCTG
ENST00000548677.2:n.256-212_256-210delinsCTG
ENST00000548928.1:n.91-212_91-210delinsCTG
ENST00000549111.5:n.265-212_265-210delinsCTG
ENST00000550978.6:c.153-212_153-210delinsCTG
ENST00000551337.5:c.169-212_169-210delinsCTG ENSP00000447620.1:n.169-212_169-210delinsCTG
ENST00000551988.5:n.258-212_258-210delinsCTG
ENST00000553106.5:c.169-212_169-210delinsCTG ENSP00000448059.1:n.169-212_169-210delinsCTG
ENST00000635500.1:n.137-212_137-210delinsCTG
NM_000277.1:c.169-212_169-210delinsCTG NP_000268.1:n.169-212_169-210delinsCTG
XM_011538422.1:c.169-212_169-210delinsCTG XP_011536724.1:n.169-212_169-210delinsCTG
NM_000277.2:c.169-212_169-210delinsCTG NP_000268.1:n.169-212_169-210delinsCTG
NM_001354304.1:c.169-212_169-210delinsCTG NP_001341233.1:n.169-212_169-210delinsCTG
XM_017019370.2:c.169-212_169-210delinsCTG XP_016874859.1:n.169-212_169-210delinsCTG
NM_000277.3:c.169-212_169-210delinsCTG MANE Select NP_000268.1:n.169-212_169-210delinsCTG
NM_001354304.2:c.169-212_169-210delinsCTG NP_001341233.1:n.169-212_169-210delinsCTG
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