Canonical Allele Identifier: CA2695217174

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894915_102894918del , CM000674.2:g.102894915_102894918del	GRCh38
NC_000012.11:g.103288693_103288696del , CM000674.1:g.103288693_103288696del	GRCh37
NC_000012.10:g.101812823_101812826del	NCBI36
NG_008690.1:g.27685_27688del
NG_008690.2:g.68493_68496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.169_172del MANE Select	ENSP00000448059.1:p.Glu57MetfsTer3
ENST00000307000.7:c.154_157del	ENSP00000303500.2:p.Glu52MetfsTer3
ENST00000546844.1:c.169_172del	ENSP00000446658.1:p.Glu57MetfsTer3
ENST00000548677.2:n.256_259del
ENST00000548928.1:n.91_94del
ENST00000549111.5:n.265_268del
ENST00000550978.6:c.153_156del
ENST00000551337.5:c.169_172del	ENSP00000447620.1:p.Glu57MetfsTer3
ENST00000551988.5:n.258_261del
ENST00000553106.5:c.169_172del	ENSP00000448059.1:p.Glu57MetfsTer3
ENST00000635500.1:n.137_140del
NM_000277.1:c.169_172del	NP_000268.1:p.Glu57MetfsTer3
XM_011538422.1:c.169_172del	XP_011536724.1:p.Glu57MetfsTer3
NM_000277.2:c.169_172del	NP_000268.1:p.Glu57MetfsTer3
NM_001354304.1:c.169_172del	NP_001341233.1:p.Glu57MetfsTer3
XM_017019370.2:c.169_172del	XP_016874859.1:p.Glu57MetfsTer3
NM_000277.3:c.169_172del MANE Select	NP_000268.1:p.Glu57MetfsTer3
NM_001354304.2:c.169_172del	NP_001341233.1:p.Glu57MetfsTer3