Canonical Allele Identifier: CA2620509669
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102916933-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916935del , CM000674.2:g.102916935del GRCh38
NC_000012.11:g.103310713del , CM000674.1:g.103310713del GRCh37
NC_000012.10:g.101834843del NCBI36
NG_008690.1:g.5669del
NG_008690.2:g.46477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+137del MANE Select ENSP00000448059.1:n.60+137del
ENST00000307000.7:c.-88+137del ENSP00000303500.2:n.-88+137del
ENST00000546844.1:c.60+137del ENSP00000446658.1:n.60+137del
ENST00000547319.1:n.371+137del
ENST00000549111.5:n.156+137del
ENST00000550978.6:c.44+137del
ENST00000551337.5:c.60+137del ENSP00000447620.1:n.60+137del
ENST00000551988.5:n.149+137del
ENST00000553106.5:c.60+137del ENSP00000448059.1:n.60+137del
ENST00000635500.1:n.29-4036del
NM_000277.1:c.60+137del NP_000268.1:n.60+137del
XM_011538422.1:c.60+137del XP_011536724.1:n.60+137del
NM_000277.2:c.60+137del NP_000268.1:n.60+137del
NM_001354304.1:c.60+137del NP_001341233.1:n.60+137del
XM_017019370.2:c.60+137del XP_016874859.1:n.60+137del
NM_000277.3:c.60+137del MANE Select NP_000268.1:n.60+137del
NM_001354304.2:c.60+137del NP_001341233.1:n.60+137del
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