Canonical Allele Identifier: CA2059476282
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917312_102917315delinsCAGG , CM000674.2:g.102917312_102917315delinsCAGG GRCh38
NC_000012.11:g.103311090_103311093delinsCAGG , CM000674.1:g.103311090_103311093delinsCAGG GRCh37
NC_000012.10:g.101835220_101835223delinsCAGG NCBI36
NG_008690.1:g.5289_5292delinsCCTG
NG_008690.2:g.46096_46099delinsCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-90_493-87delinsCCTG
ENST00000546844.1:c.-95-90_-95-87delinsCCTG ENSP00000446658.1:n.-95-90_-95-87delinsCCTG
ENST00000547319.1:n.217-90_217-87delinsCCTG
ENST00000551337.5:c.-95-90_-95-87delinsCCTG ENSP00000447620.1:n.-95-90_-95-87delinsCCTG
ENST00000553106.5:c.-185_-182delinsCCTG ENSP00000448059.1:n.-185_-182delinsCCTG
ENST00000635500.1:n.29-4417_29-4414delinsCCTG
NM_000277.1:c.-184_-181delinsCCTG NP_000268.1:n.-184_-181delinsCCTG
NM_000277.2:c.-185_-182delinsCCTG NP_000268.1:n.-185_-182delinsCCTG
NM_001354304.1:c.-95-90_-95-87delinsCCTG NP_001341233.1:n.-95-90_-95-87delinsCCTG
NM_001354304.2:c.-95-90_-95-87delinsCCTG NP_001341233.1:n.-95-90_-95-87delinsCCTG
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