Canonical Allele Identifier: CA2059476134
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917042_102917043delinsAC , CM000674.2:g.102917042_102917043delinsAC GRCh38
NC_000012.11:g.103310820_103310821delinsAC , CM000674.1:g.103310820_103310821delinsAC GRCh37
NC_000012.10:g.101834950_101834951delinsAC NCBI36
NG_008690.1:g.5560_5561delinsGT
NG_008690.2:g.46368_46369delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.60+28_60+29delinsGT MANE Select ENSP00000448059.1:n.60+28_60+29delinsGT
ENST00000307000.7:c.-88+28_-88+29delinsGT ENSP00000303500.2:n.-88+28_-88+29delinsGT...
ENST00000546844.1:c.60+28_60+29delinsGT ENSP00000446658.1:n.60+28_60+29delinsGT
ENST00000547319.1:n.371+28_371+29delinsGT
ENST00000549111.5:n.156+28_156+29delinsGT
ENST00000550978.6:c.44+28_44+29delinsGT
ENST00000551337.5:c.60+28_60+29delinsGT ENSP00000447620.1:n.60+28_60+29delinsGT
ENST00000551988.5:n.149+28_149+29delinsGT
ENST00000553106.5:c.60+28_60+29delinsGT ENSP00000448059.1:n.60+28_60+29delinsGT
ENST00000635500.1:n.29-4145_29-4144delinsGT
NM_000277.1:c.60+28_60+29delinsGT NP_000268.1:n.60+28_60+29delinsGT
XM_011538422.1:c.60+28_60+29delinsGT XP_011536724.1:n.60+28_60+29delinsGT
NM_000277.2:c.60+28_60+29delinsGT NP_000268.1:n.60+28_60+29delinsGT
NM_001354304.1:c.60+28_60+29delinsGT NP_001341233.1:n.60+28_60+29delinsGT
XM_017019370.2:c.60+28_60+29delinsGT XP_016874859.1:n.60+28_60+29delinsGT
NM_000277.3:c.60+28_60+29delinsGT MANE Select NP_000268.1:n.60+28_60+29delinsGT
NM_001354304.2:c.60+28_60+29delinsGT NP_001341233.1:n.60+28_60+29delinsGT
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