Canonical Allele Identifier: CA2620511120

Gene: PAH

Linked Data

• gnomAD v4: 12-102917303-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917304del , CM000674.2:g.102917304del	GRCh38
NC_000012.11:g.103311082del , CM000674.1:g.103311082del	GRCh37
NC_000012.10:g.101835212del	NCBI36
NG_008690.1:g.5300del
NG_008690.2:g.46107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-79del
ENST00000546844.1:c.-95-79del	ENSP00000446658.1:n.-95-79del
ENST00000547319.1:n.217-79del
ENST00000551337.5:c.-95-79del	ENSP00000447620.1:n.-95-79del
ENST00000553106.5:c.-174del	ENSP00000448059.1:n.-174del
ENST00000635500.1:n.29-4406del
NM_000277.1:c.-173del	NP_000268.1:n.-173del
NM_000277.2:c.-174del	NP_000268.1:n.-174del
NM_001354304.1:c.-95-79del	NP_001341233.1:n.-95-79del
NM_001354304.2:c.-95-79del	NP_001341233.1:n.-95-79del