Canonical Allele Identifier: CA951244920
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1877448173
gnomAD v3: 12-102895128-CAG-C
gnomAD v4: 12-102895128-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895129_102895130del , CM000674.2:g.102895129_102895130del GRCh38
NC_000012.11:g.103288907_103288908del , CM000674.1:g.103288907_103288908del GRCh37
NC_000012.10:g.101813037_101813038del NCBI36
NG_008690.1:g.27473_27474del
NG_008690.2:g.68281_68282del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-212_169-211del MANE Select ENSP00000448059.1:n.169-212_169-211del
ENST00000307000.7:c.154-212_154-211del ENSP00000303500.2:n.154-212_154-211del
ENST00000546844.1:c.169-212_169-211del ENSP00000446658.1:n.169-212_169-211del
ENST00000548677.2:n.256-212_256-211del
ENST00000548928.1:n.91-212_91-211del
ENST00000549111.5:n.265-212_265-211del
ENST00000550978.6:c.153-212_153-211del
ENST00000551337.5:c.169-212_169-211del ENSP00000447620.1:n.169-212_169-211del
ENST00000551988.5:n.258-212_258-211del
ENST00000553106.5:c.169-212_169-211del ENSP00000448059.1:n.169-212_169-211del
ENST00000635500.1:n.137-212_137-211del
NM_000277.1:c.169-212_169-211del NP_000268.1:n.169-212_169-211del
XM_011538422.1:c.169-212_169-211del XP_011536724.1:n.169-212_169-211del
NM_000277.2:c.169-212_169-211del NP_000268.1:n.169-212_169-211del
NM_001354304.1:c.169-212_169-211del NP_001341233.1:n.169-212_169-211del
XM_017019370.2:c.169-212_169-211del XP_016874859.1:n.169-212_169-211del
NM_000277.3:c.169-212_169-211del MANE Select NP_000268.1:n.169-212_169-211del
NM_001354304.2:c.169-212_169-211del NP_001341233.1:n.169-212_169-211del
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