Canonical Allele Identifier: CA2059476145
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917064_102917066delinsGGC , CM000674.2:g.102917064_102917066delinsGGC GRCh38
NC_000012.11:g.103310842_103310844delinsGGC , CM000674.1:g.103310842_103310844delinsGGC GRCh37
NC_000012.10:g.101834972_101834974delinsGGC NCBI36
NG_008690.1:g.5537_5539delinsGCC
NG_008690.2:g.46345_46347delinsGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.60+5_60+7delinsGCC MANE Select ENSP00000448059.1:n.60+5_60+7delinsGCC
ENST00000307000.7:c.-88+5_-88+7delinsGCC ENSP00000303500.2:n.-88+5_-88+7delinsGCC
ENST00000546844.1:c.60+5_60+7delinsGCC ENSP00000446658.1:n.60+5_60+7delinsGCC
ENST00000547319.1:n.371+5_371+7delinsGCC
ENST00000549111.5:n.156+5_156+7delinsGCC
ENST00000550978.6:c.44+5_44+7delinsGCC
ENST00000551337.5:c.60+5_60+7delinsGCC ENSP00000447620.1:n.60+5_60+7delinsGCC
ENST00000551988.5:n.149+5_149+7delinsGCC
ENST00000553106.5:c.60+5_60+7delinsGCC ENSP00000448059.1:n.60+5_60+7delinsGCC
ENST00000635500.1:n.29-4168_29-4166delinsGCC
NM_000277.1:c.60+5_60+7delinsGCC NP_000268.1:n.60+5_60+7delinsGCC
XM_011538422.1:c.60+5_60+7delinsGCC XP_011536724.1:n.60+5_60+7delinsGCC
NM_000277.2:c.60+5_60+7delinsGCC NP_000268.1:n.60+5_60+7delinsGCC
NM_001354304.1:c.60+5_60+7delinsGCC NP_001341233.1:n.60+5_60+7delinsGCC
XM_017019370.2:c.60+5_60+7delinsGCC XP_016874859.1:n.60+5_60+7delinsGCC
NM_000277.3:c.60+5_60+7delinsGCC MANE Select NP_000268.1:n.60+5_60+7delinsGCC
NM_001354304.2:c.60+5_60+7delinsGCC NP_001341233.1:n.60+5_60+7delinsGCC
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