Canonical Allele Identifier: CA2059466538

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894736_102894737delinsTG , CM000674.2:g.102894736_102894737delinsTG	GRCh38
NC_000012.11:g.103288514_103288515delinsTG , CM000674.1:g.103288514_103288515delinsTG	GRCh37
NC_000012.10:g.101812644_101812645delinsTG	NCBI36
NG_008690.1:g.27866_27867delinsCA
NG_008690.2:g.68674_68675delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.350_351delinsCA MANE Select	ENSP00000448059.1:p.Thr117=
ENST00000307000.7:c.335_336delinsCA	ENSP00000303500.2:p.Thr112=
ENST00000546844.1:c.350_351delinsCA	ENSP00000446658.1:p.Thr117=
ENST00000548928.1:n.272_273delinsCA
ENST00000549111.5:n.446_447delinsCA
ENST00000550978.6:c.334_335delinsCA
ENST00000551337.5:c.350_351delinsCA	ENSP00000447620.1:p.Thr117=
ENST00000551988.5:n.439_440delinsCA
ENST00000553106.5:c.350_351delinsCA	ENSP00000448059.1:p.Thr117=
NM_000277.1:c.350_351delinsCA	NP_000268.1:p.Thr117=
XM_011538422.1:c.350_351delinsCA	XP_011536724.1:p.Thr117=
NM_000277.2:c.350_351delinsCA	NP_000268.1:p.Thr117=
NM_001354304.1:c.350_351delinsCA	NP_001341233.1:p.Thr117=
XM_017019370.2:c.350_351delinsCA	XP_016874859.1:p.Thr117=
NM_000277.3:c.350_351delinsCA MANE Select	NP_000268.1:p.Thr117=
NM_001354304.2:c.350_351delinsCA	NP_001341233.1:p.Thr117=