Canonical Allele Identifier: CA2697551520
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2698154
ClinVar RCV Id: RCV003495527
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917061_102917066del , CM000674.2:g.102917061_102917066del GRCh38
NC_000012.11:g.103310839_103310844del , CM000674.1:g.103310839_103310844del GRCh37
NC_000012.10:g.101834969_101834974del NCBI36
NG_008690.1:g.5539_5544del
NG_008690.2:g.46347_46352del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.60+7_60+12del MANE Select ENSP00000448059.1:n.60+7_60+12del
ENST00000307000.7:c.-88+7_-88+12del ENSP00000303500.2:n.-88+7_-88+12del
ENST00000546844.1:c.60+7_60+12del ENSP00000446658.1:n.60+7_60+12del
ENST00000547319.1:n.371+7_371+12del
ENST00000549111.5:n.156+7_156+12del
ENST00000550978.6:c.44+7_44+12del
ENST00000551337.5:c.60+7_60+12del ENSP00000447620.1:n.60+7_60+12del
ENST00000551988.5:n.149+7_149+12del
ENST00000553106.5:c.60+7_60+12del ENSP00000448059.1:n.60+7_60+12del
ENST00000635500.1:n.29-4166_29-4161del
NM_000277.1:c.60+7_60+12del NP_000268.1:n.60+7_60+12del
XM_011538422.1:c.60+7_60+12del XP_011536724.1:n.60+7_60+12del
NM_000277.2:c.60+7_60+12del NP_000268.1:n.60+7_60+12del
NM_001354304.1:c.60+7_60+12del NP_001341233.1:n.60+7_60+12del
XM_017019370.2:c.60+7_60+12del XP_016874859.1:n.60+7_60+12del
NM_000277.3:c.60+7_60+12del MANE Select NP_000268.1:n.60+7_60+12del
NM_001354304.2:c.60+7_60+12del NP_001341233.1:n.60+7_60+12del
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