Canonical Allele Identifier: CA2059476313

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917365_102917370delinsCGGAGG , CM000674.2:g.102917365_102917370delinsCGGAGG	GRCh38
NC_000012.11:g.103311143_103311148delinsCGGAGG , CM000674.1:g.103311143_103311148delinsCGGAGG	GRCh37
NC_000012.10:g.101835273_101835278delinsCGGAGG	NCBI36
NG_008690.1:g.5234_5239delinsCCTCCG
NG_008690.2:g.46041_46046delinsCCTCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-145_493-140delinsCCTCCG
ENST00000546844.1:c.-95-145_-95-140delinsCCTCCG	ENSP00000446658.1:n.-95-145_-95-140delinsCCTCCG
ENST00000547319.1:n.217-145_217-140delinsCCTCCG
ENST00000551337.5:c.-95-145_-95-140delinsCCTCCG	ENSP00000447620.1:n.-95-145_-95-140delinsCCTCCG
ENST00000553106.5:c.-240_-235delinsCCTCCG	ENSP00000448059.1:n.-240_-235delinsCCTCCG
ENST00000635500.1:n.29-4472_29-4467delinsCCTCCG
NM_000277.1:c.-239_-234delinsCCTCCG	NP_000268.1:n.-239_-234delinsCCTCCG
NM_000277.2:c.-240_-235delinsCCTCCG	NP_000268.1:n.-240_-235delinsCCTCCG
NM_001354304.1:c.-95-145_-95-140delinsCCTCCG	NP_001341233.1:n.-95-145_-95-140delinsCCTCCG
NM_001354304.2:c.-95-145_-95-140delinsCCTCCG	NP_001341233.1:n.-95-145_-95-140delinsCCTCCG