Canonical Allele Identifier: CA2059476211

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917194_102917196delinsCAG , CM000674.2:g.102917194_102917196delinsCAG	GRCh38
NC_000012.11:g.103310972_103310974delinsCAG , CM000674.1:g.103310972_103310974delinsCAG	GRCh37
NC_000012.10:g.101835102_101835104delinsCAG	NCBI36
NG_008690.1:g.5407_5409delinsCTG
NG_008690.2:g.46215_46217delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-66_-64delinsCTG MANE Select	ENSP00000448059.1:n.-66_-64delinsCTG
ENST00000307000.7:c.-213_-211delinsCTG	ENSP00000303500.2:n.-213_-211delinsCTG
ENST00000546708.5:n.522_524delinsCTG
ENST00000546844.1:c.-66_-64delinsCTG	ENSP00000446658.1:n.-66_-64delinsCTG
ENST00000547319.1:n.246_248delinsCTG
ENST00000549111.5:n.31_33delinsCTG
ENST00000551337.5:c.-66_-64delinsCTG	ENSP00000447620.1:n.-66_-64delinsCTG
ENST00000551988.5:n.24_26delinsCTG
ENST00000553106.5:c.-66_-64delinsCTG	ENSP00000448059.1:n.-66_-64delinsCTG
ENST00000635500.1:n.29-4298_29-4296delinsCTG
NM_000277.1:c.-66_-64delinsCTG	NP_000268.1:n.-66_-64delinsCTG
XM_011538422.1:c.-66_-64delinsCTG	XP_011536724.1:n.-66_-64delinsCTG
NM_000277.2:c.-66_-64delinsCTG	NP_000268.1:n.-66_-64delinsCTG
NM_001354304.1:c.-66_-64delinsCTG	NP_001341233.1:n.-66_-64delinsCTG
XM_017019370.2:c.-66_-64delinsCTG	XP_016874859.1:n.-66_-64delinsCTG
NM_000277.3:c.-66_-64delinsCTG MANE Select	NP_000268.1:n.-66_-64delinsCTG
NM_001354304.2:c.-66_-64delinsCTG	NP_001341233.1:n.-66_-64delinsCTG