Canonical Allele Identifier: CA16020756

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894854_102894857del , CM000674.2:g.102894854_102894857del	GRCh38
NC_000012.11:g.103288632_103288635del , CM000674.1:g.103288632_103288635del	GRCh37
NC_000012.10:g.101812762_101812765del	NCBI36
NG_008690.1:g.27748_27751del
NG_008690.2:g.68556_68559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.232_235del MANE Select	ENSP00000448059.1:p.Glu78PhefsTer13
ENST00000307000.7:c.217_220del	ENSP00000303500.2:p.Glu73PhefsTer13
ENST00000546844.1:c.232_235del	ENSP00000446658.1:p.Glu78PhefsTer13
ENST00000548677.2:n.319_322del
ENST00000548928.1:n.154_157del
ENST00000549111.5:n.328_331del
ENST00000550978.6:c.216_219del
ENST00000551337.5:c.232_235del	ENSP00000447620.1:p.Glu78PhefsTer13
ENST00000551988.5:n.321_324del
ENST00000553106.5:c.232_235del	ENSP00000448059.1:p.Glu78PhefsTer13
NM_000277.1:c.232_235del	NP_000268.1:p.Glu78PhefsTer13
XM_011538422.1:c.232_235del	XP_011536724.1:p.Glu78PhefsTer13
NM_000277.2:c.232_235del	NP_000268.1:p.Glu78PhefsTer13
NM_001354304.1:c.232_235del	NP_001341233.1:p.Glu78PhefsTer13
XM_017019370.2:c.232_235del	XP_016874859.1:p.Glu78PhefsTer13
NM_000277.3:c.232_235del MANE Select	NP_000268.1:p.Glu78PhefsTer13
NM_001354304.2:c.232_235del	NP_001341233.1:p.Glu78PhefsTer13