Canonical Allele Identifier: CA2620507642

Gene: PAH

Linked Data

• gnomAD v4: 12-102877544-C-CATTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877545_102877546insTTCAA , CM000674.2:g.102877545_102877546insTTCAA	GRCh38
NC_000012.11:g.103271323_103271324insTTCAA , CM000674.1:g.103271323_103271324insTTCAA	GRCh37
NC_000012.10:g.101795453_101795454insTTCAA	NCBI36
NG_008690.1:g.45058_45059insTGAAT
NG_008690.2:g.85866_85867insTGAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.358_359insTGAAT MANE Select	ENSP00000448059.1:p.Trp120LeufsTer?
ENST00000307000.7:c.343_344insTGAAT	ENSP00000303500.2:p.Trp115LeufsTer?
ENST00000549111.5:n.454_455insTGAAT
ENST00000550978.6:c.342_343insTGAAT
ENST00000551337.5:c.358_359insTGAAT	ENSP00000447620.1:p.Trp120LeufsTer?
ENST00000551988.5:n.447_448insTGAAT
ENST00000553106.5:c.358_359insTGAAT	ENSP00000448059.1:p.Trp120LeufsTer?
NM_000277.1:c.358_359insTGAAT	NP_000268.1:p.Trp120LeufsTer?
XM_011538422.1:c.358_359insTGAAT	XP_011536724.1:p.Trp120LeufsTer?
NM_000277.2:c.358_359insTGAAT	NP_000268.1:p.Trp120LeufsTer?
NM_001354304.1:c.358_359insTGAAT	NP_001341233.1:p.Trp120LeufsTer?
XM_017019370.2:c.358_359insTGAAT	XP_016874859.1:p.Trp120LeufsTer?
NM_000277.3:c.358_359insTGAAT MANE Select	NP_000268.1:p.Trp120LeufsTer?
NM_001354304.2:c.358_359insTGAAT	NP_001341233.1:p.Trp120LeufsTer?