Canonical Allele Identifier: CA2695217180

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917107_102917108delinsA , CM000674.2:g.102917107_102917108delinsA	GRCh38
NC_000012.11:g.103310885_103310886delinsA , CM000674.1:g.103310885_103310886delinsA	GRCh37
NC_000012.10:g.101835015_101835016delinsA	NCBI36
NG_008690.1:g.5495_5496delinsT
NG_008690.2:g.46303_46304delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.23_24delinsT MANE Select	ENSP00000448059.1:p.Asn8IlefsTer30
ENST00000307000.7:c.-125_-124delinsT	ENSP00000303500.2:n.-125_-124delinsT
ENST00000546844.1:c.23_24delinsT	ENSP00000446658.1:p.Asn8IlefsTer30
ENST00000547319.1:n.334_335delinsT
ENST00000549111.5:n.119_120delinsT
ENST00000550978.6:c.7_8delinsT
ENST00000551337.5:c.23_24delinsT	ENSP00000447620.1:p.Asn8IlefsTer30
ENST00000551988.5:n.112_113delinsT
ENST00000553106.5:c.23_24delinsT	ENSP00000448059.1:p.Asn8IlefsTer30
ENST00000635500.1:n.29-4210_29-4209delinsT
NM_000277.1:c.23_24delinsT	NP_000268.1:p.Asn8IlefsTer30
XM_011538422.1:c.23_24delinsT	XP_011536724.1:p.Asn8IlefsTer30
NM_000277.2:c.23_24delinsT	NP_000268.1:p.Asn8IlefsTer30
NM_001354304.1:c.23_24delinsT	NP_001341233.1:p.Asn8IlefsTer30
XM_017019370.2:c.23_24delinsT	XP_016874859.1:p.Asn8IlefsTer30
NM_000277.3:c.23_24delinsT MANE Select	NP_000268.1:p.Asn8IlefsTer30
NM_001354304.2:c.23_24delinsT	NP_001341233.1:p.Asn8IlefsTer30