Canonical Allele Identifier: CA2571020594

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877477del , CM000674.2:g.102877477del	GRCh38
NC_000012.11:g.103271255del , CM000674.1:g.103271255del	GRCh37
NC_000012.10:g.101795385del	NCBI36
NG_008690.1:g.45127del
NG_008690.2:g.85935del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.427del MANE Select	ENSP00000448059.1:p.Asp143MetfsTer?
ENST00000307000.7:c.412del	ENSP00000303500.2:p.Asp138MetfsTer?
ENST00000549111.5:n.523del
ENST00000550978.6:c.411del
ENST00000551988.5:n.516del
ENST00000553106.5:c.427del	ENSP00000448059.1:p.Asp143MetfsTer?
NM_000277.1:c.427del	NP_000268.1:p.Asp143MetfsTer?
XM_011538422.1:c.427del	XP_011536724.1:p.Asp143MetfsTer?
NM_000277.2:c.427del	NP_000268.1:p.Asp143MetfsTer?
NM_001354304.1:c.427del	NP_001341233.1:p.Asp143MetfsTer?
XM_017019370.2:c.427del	XP_016874859.1:p.Asp143MetfsTer?
NM_000277.3:c.427del MANE Select	NP_000268.1:p.Asp143MetfsTer?
NM_001354304.2:c.427del	NP_001341233.1:p.Asp143MetfsTer?