Canonical Allele Identifier: CA2059476203

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917177_102917178delinsAC , CM000674.2:g.102917177_102917178delinsAC	GRCh38
NC_000012.11:g.103310955_103310956delinsAC , CM000674.1:g.103310955_103310956delinsAC	GRCh37
NC_000012.10:g.101835085_101835086delinsAC	NCBI36
NG_008690.1:g.5425_5426delinsGT
NG_008690.2:g.46233_46234delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-48_-47delinsGT MANE Select	ENSP00000448059.1:n.-48_-47delinsGT
ENST00000307000.7:c.-195_-194delinsGT	ENSP00000303500.2:n.-195_-194delinsGT
ENST00000546708.5:n.540_541delinsGT
ENST00000546844.1:c.-48_-47delinsGT	ENSP00000446658.1:n.-48_-47delinsGT
ENST00000547319.1:n.264_265delinsGT
ENST00000549111.5:n.49_50delinsGT
ENST00000551337.5:c.-48_-47delinsGT	ENSP00000447620.1:n.-48_-47delinsGT
ENST00000551988.5:n.42_43delinsGT
ENST00000553106.5:c.-48_-47delinsGT	ENSP00000448059.1:n.-48_-47delinsGT
ENST00000635500.1:n.29-4280_29-4279delinsGT
NM_000277.1:c.-48_-47delinsGT	NP_000268.1:n.-48_-47delinsGT
XM_011538422.1:c.-48_-47delinsGT	XP_011536724.1:n.-48_-47delinsGT
NM_000277.2:c.-48_-47delinsGT	NP_000268.1:n.-48_-47delinsGT
NM_001354304.1:c.-48_-47delinsGT	NP_001341233.1:n.-48_-47delinsGT
XM_017019370.2:c.-48_-47delinsGT	XP_016874859.1:n.-48_-47delinsGT
NM_000277.3:c.-48_-47delinsGT MANE Select	NP_000268.1:n.-48_-47delinsGT
NM_001354304.2:c.-48_-47delinsGT	NP_001341233.1:n.-48_-47delinsGT