Canonical Allele Identifier: CA682819165

Gene: PAH

Linked Data

• dbSNP Id: rs1235520741
• MyVariant Identifiers: chr12:g.103311019_103311020insAGTT (hg19) ; chr12:g.102917241_102917242insAGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917243_102917246dup , CM000674.2:g.102917243_102917246dup	GRCh38
NC_000012.11:g.103311021_103311024dup , CM000674.1:g.103311021_103311024dup	GRCh37
NC_000012.10:g.101835151_101835154dup	NCBI36
NG_008690.1:g.5358_5361dup
NG_008690.2:g.46166_46169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307000.7:c.-262_-259dup	ENSP00000303500.2:n.-262_-259dup
ENST00000546708.5:n.493-20_493-17dup
ENST00000546844.1:c.-95-20_-95-17dup	ENSP00000446658.1:n.-95-20_-95-17dup
ENST00000547319.1:n.217-20_217-17dup
ENST00000551337.5:c.-95-20_-95-17dup	ENSP00000447620.1:n.-95-20_-95-17dup
ENST00000553106.5:c.-115_-112dup	ENSP00000448059.1:n.-115_-112dup
ENST00000635500.1:n.29-4347_29-4344dup
NM_000277.1:c.-115_-112dup	NP_000268.1:n.-115_-112dup
NM_000277.2:c.-115_-112dup	NP_000268.1:n.-115_-112dup
NM_001354304.1:c.-95-20_-95-17dup	NP_001341233.1:n.-95-20_-95-17dup
NM_001354304.2:c.-95-20_-95-17dup	NP_001341233.1:n.-95-20_-95-17dup