Canonical Allele Identifier: CA2695217168

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894851_102894854del , CM000674.2:g.102894851_102894854del	GRCh38
NC_000012.11:g.103288629_103288632del , CM000674.1:g.103288629_103288632del	GRCh37
NC_000012.10:g.101812759_101812762del	NCBI36
NG_008690.1:g.27749_27752del
NG_008690.2:g.68557_68560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.233_236del MANE Select	ENSP00000448059.1:p.Glu78ValfsTer13
ENST00000307000.7:c.218_221del	ENSP00000303500.2:p.Glu73ValfsTer13
ENST00000546844.1:c.233_236del	ENSP00000446658.1:p.Glu78ValfsTer13
ENST00000548677.2:n.320_323del
ENST00000548928.1:n.155_158del
ENST00000549111.5:n.329_332del
ENST00000550978.6:c.217_220del
ENST00000551337.5:c.233_236del	ENSP00000447620.1:p.Glu78ValfsTer13
ENST00000551988.5:n.322_325del
ENST00000553106.5:c.233_236del	ENSP00000448059.1:p.Glu78ValfsTer13
NM_000277.1:c.233_236del	NP_000268.1:p.Glu78ValfsTer13
XM_011538422.1:c.233_236del	XP_011536724.1:p.Glu78ValfsTer13
NM_000277.2:c.233_236del	NP_000268.1:p.Glu78ValfsTer13
NM_001354304.1:c.233_236del	NP_001341233.1:p.Glu78ValfsTer13
XM_017019370.2:c.233_236del	XP_016874859.1:p.Glu78ValfsTer13
NM_000277.3:c.233_236del MANE Select	NP_000268.1:p.Glu78ValfsTer13
NM_001354304.2:c.233_236del	NP_001341233.1:p.Glu78ValfsTer13