Canonical Allele Identifier: CA2059476266
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917287_102917288delinsGC , CM000674.2:g.102917287_102917288delinsGC GRCh38
NC_000012.11:g.103311065_103311066delinsGC , CM000674.1:g.103311065_103311066delinsGC GRCh37
NC_000012.10:g.101835195_101835196delinsGC NCBI36
NG_008690.1:g.5315_5316delinsGC
NG_008690.2:g.46123_46124delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-63_493-62delinsGC
ENST00000546844.1:c.-95-63_-95-62delinsGC ENSP00000446658.1:n.-95-63_-95-62delinsGC
ENST00000547319.1:n.217-63_217-62delinsGC
ENST00000551337.5:c.-95-63_-95-62delinsGC ENSP00000447620.1:n.-95-63_-95-62delinsGC
ENST00000553106.5:c.-158_-157delinsGC ENSP00000448059.1:n.-158_-157delinsGC
ENST00000635500.1:n.29-4390_29-4389delinsGC
NM_000277.1:c.-158_-157delinsGC NP_000268.1:n.-158_-157delinsGC
NM_000277.2:c.-158_-157delinsGC NP_000268.1:n.-158_-157delinsGC
NM_001354304.1:c.-95-63_-95-62delinsGC NP_001341233.1:n.-95-63_-95-62delinsGC
NM_001354304.2:c.-95-63_-95-62delinsGC NP_001341233.1:n.-95-63_-95-62delinsGC
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