Canonical Allele Identifier: CA2059473257

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912792_102912793delinsTC , CM000674.2:g.102912792_102912793delinsTC	GRCh38
NC_000012.11:g.103306570_103306571delinsTC , CM000674.1:g.103306570_103306571delinsTC	GRCh37
NC_000012.10:g.101830700_101830701delinsTC	NCBI36
NG_008690.1:g.9810_9811delinsGA
NG_008690.2:g.50618_50619delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.166_167delinsGA MANE Select	ENSP00000448059.1:p.Glu56=
ENST00000307000.7:c.151_152delinsGA	ENSP00000303500.2:p.Glu51=
ENST00000546844.1:c.166_167delinsGA	ENSP00000446658.1:p.Glu56=
ENST00000548677.2:n.253_254delinsGA
ENST00000548928.1:n.88_89delinsGA
ENST00000549111.5:n.262_263delinsGA
ENST00000550978.6:c.150_151delinsGA
ENST00000551337.5:c.166_167delinsGA	ENSP00000447620.1:p.Glu56=
ENST00000551988.5:n.255_256delinsGA
ENST00000553106.5:c.166_167delinsGA	ENSP00000448059.1:p.Glu56=
ENST00000635500.1:n.134_135delinsGA
NM_000277.1:c.166_167delinsGA	NP_000268.1:p.Glu56=
XM_011538422.1:c.166_167delinsGA	XP_011536724.1:p.Glu56=
NM_000277.2:c.166_167delinsGA	NP_000268.1:p.Glu56=
NM_001354304.1:c.166_167delinsGA	NP_001341233.1:p.Glu56=
XM_017019370.2:c.166_167delinsGA	XP_016874859.1:p.Glu56=
NM_000277.3:c.166_167delinsGA MANE Select	NP_000268.1:p.Glu56=
NM_001354304.2:c.166_167delinsGA	NP_001341233.1:p.Glu56=