Canonical Allele Identifier: CA2620511258

Gene: PAH

Linked Data

• gnomAD v4: 12-102917332-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917332_102917333insGT , CM000674.2:g.102917332_102917333insGT	GRCh38
NC_000012.11:g.103311110_103311111insGT , CM000674.1:g.103311110_103311111insGT	GRCh37
NC_000012.10:g.101835240_101835241insGT	NCBI36
NG_008690.1:g.5271_5272insAC
NG_008690.2:g.46078_46079insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-108_493-107insAC
ENST00000546844.1:c.-95-108_-95-107insAC	ENSP00000446658.1:n.-95-108_-95-107insAC
ENST00000547319.1:n.217-108_217-107insAC
ENST00000551337.5:c.-95-108_-95-107insAC	ENSP00000447620.1:n.-95-108_-95-107insAC
ENST00000553106.5:c.-203_-202insAC	ENSP00000448059.1:n.-203_-202insAC
ENST00000635500.1:n.29-4435_29-4434insAC
NM_000277.1:c.-202_-201insAC	NP_000268.1:n.-202_-201insAC
NM_000277.2:c.-203_-202insAC	NP_000268.1:n.-203_-202insAC
NM_001354304.1:c.-95-108_-95-107insAC	NP_001341233.1:n.-95-108_-95-107insAC
NM_001354304.2:c.-95-108_-95-107insAC	NP_001341233.1:n.-95-108_-95-107insAC