Canonical Allele Identifier: CA2620511389

Gene: PAH

Linked Data

• gnomAD v4: 12-102917363-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917365del , CM000674.2:g.102917365del	GRCh38
NC_000012.11:g.103311143del , CM000674.1:g.103311143del	GRCh37
NC_000012.10:g.101835273del	NCBI36
NG_008690.1:g.5240del
NG_008690.2:g.46047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-139del
ENST00000546844.1:c.-95-139del	ENSP00000446658.1:n.-95-139del
ENST00000547319.1:n.217-139del
ENST00000551337.5:c.-95-139del	ENSP00000447620.1:n.-95-139del
ENST00000553106.5:c.-234del	ENSP00000448059.1:n.-234del
ENST00000635500.1:n.29-4466del
NM_000277.1:c.-233del	NP_000268.1:n.-233del
NM_000277.2:c.-234del	NP_000268.1:n.-234del
NM_001354304.1:c.-95-139del	NP_001341233.1:n.-95-139del
NM_001354304.2:c.-95-139del	NP_001341233.1:n.-95-139del