Canonical Allele Identifier: CA2620511599

Gene: PAH

Linked Data

• gnomAD v4: 12-102917391-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917395_102917396del , CM000674.2:g.102917395_102917396del	GRCh38
NC_000012.11:g.103311173_103311174del , CM000674.1:g.103311173_103311174del	GRCh37
NC_000012.10:g.101835303_101835304del	NCBI36
NG_008690.1:g.5211_5212del
NG_008690.2:g.46018_46019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-168_493-167del
ENST00000546844.1:c.-95-168_-95-167del	ENSP00000446658.1:n.-95-168_-95-167del
ENST00000547319.1:n.217-168_217-167del
ENST00000551337.5:c.-95-168_-95-167del	ENSP00000447620.1:n.-95-168_-95-167del
ENST00000553106.5:c.-263_-262del	ENSP00000448059.1:n.-263_-262del
ENST00000635500.1:n.29-4495_29-4494del
NM_000277.1:c.-262_-261del	NP_000268.1:n.-262_-261del
NM_000277.2:c.-263_-262del	NP_000268.1:n.-263_-262del
NM_001354304.1:c.-95-168_-95-167del	NP_001341233.1:n.-95-168_-95-167del
NM_001354304.2:c.-95-168_-95-167del	NP_001341233.1:n.-95-168_-95-167del