Canonical Allele Identifier: CA2620511281

Gene: PAH

Linked Data

• gnomAD v4: 12-102917335-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917336del , CM000674.2:g.102917336del	GRCh38
NC_000012.11:g.103311114del , CM000674.1:g.103311114del	GRCh37
NC_000012.10:g.101835244del	NCBI36
NG_008690.1:g.5268del
NG_008690.2:g.46075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-111del
ENST00000546844.1:c.-95-111del	ENSP00000446658.1:n.-95-111del
ENST00000547319.1:n.217-111del
ENST00000551337.5:c.-95-111del	ENSP00000447620.1:n.-95-111del
ENST00000553106.5:c.-206del	ENSP00000448059.1:n.-206del
ENST00000635500.1:n.29-4438del
NM_000277.1:c.-205del	NP_000268.1:n.-205del
NM_000277.2:c.-206del	NP_000268.1:n.-206del
NM_001354304.1:c.-95-111del	NP_001341233.1:n.-95-111del
NM_001354304.2:c.-95-111del	NP_001341233.1:n.-95-111del