Canonical Allele Identifier: CA919161775
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592990991
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916838del , CM000674.2:g.102916838del GRCh38
NC_000012.11:g.103310616del , CM000674.1:g.103310616del GRCh37
NC_000012.10:g.101834746del NCBI36
NG_008690.1:g.5769del
NG_008690.2:g.46577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+237del MANE Select ENSP00000448059.1:n.60+237del
ENST00000307000.7:c.-88+237del ENSP00000303500.2:n.-88+237del
ENST00000546844.1:c.60+237del ENSP00000446658.1:n.60+237del
ENST00000547319.1:n.372-236del
ENST00000549111.5:n.156+237del
ENST00000550978.6:c.44+237del
ENST00000551337.5:c.60+237del ENSP00000447620.1:n.60+237del
ENST00000551988.5:n.149+237del
ENST00000553106.5:c.60+237del ENSP00000448059.1:n.60+237del
ENST00000635500.1:n.29-3936del
NM_000277.1:c.60+237del NP_000268.1:n.60+237del
XM_011538422.1:c.60+237del XP_011536724.1:n.60+237del
NM_000277.2:c.60+237del NP_000268.1:n.60+237del
NM_001354304.1:c.60+237del NP_001341233.1:n.60+237del
XM_017019370.2:c.60+237del XP_016874859.1:n.60+237del
NM_000277.3:c.60+237del MANE Select NP_000268.1:n.60+237del
NM_001354304.2:c.60+237del NP_001341233.1:n.60+237del
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