Canonical Allele Identifier: CA2580614531

Gene: PAH

Linked Data

• ClinVar Variation Id: 2432429
• ClinVar RCV Id: RCV003131118

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894739_102894740del , CM000674.2:g.102894739_102894740del	GRCh38
NC_000012.11:g.103288517_103288518del , CM000674.1:g.103288517_103288518del	GRCh37
NC_000012.10:g.101812647_101812648del	NCBI36
NG_008690.1:g.27866_27867del
NG_008690.2:g.68674_68675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.350_351del MANE Select	ENSP00000448059.1:p.Thr117SerfsTer28
ENST00000307000.7:c.335_336del	ENSP00000303500.2:p.Thr112SerfsTer28
ENST00000546844.1:c.350_351del	ENSP00000446658.1:p.Thr117=
ENST00000548928.1:n.272_273del
ENST00000549111.5:n.446_447del
ENST00000550978.6:c.334_335del
ENST00000551337.5:c.350_351del	ENSP00000447620.1:p.Thr117SerfsTer?
ENST00000551988.5:n.439_440del
ENST00000553106.5:c.350_351del	ENSP00000448059.1:p.Thr117SerfsTer28
NM_000277.1:c.350_351del	NP_000268.1:p.Thr117SerfsTer28
XM_011538422.1:c.350_351del	XP_011536724.1:p.Thr117SerfsTer28
NM_000277.2:c.350_351del	NP_000268.1:p.Thr117SerfsTer28
NM_001354304.1:c.350_351del	NP_001341233.1:p.Thr117SerfsTer28
XM_017019370.2:c.350_351del	XP_016874859.1:p.Thr117SerfsTer28
NM_000277.3:c.350_351del MANE Select	NP_000268.1:p.Thr117SerfsTer28
NM_001354304.2:c.350_351del	NP_001341233.1:p.Thr117SerfsTer28