Canonical Allele Identifier: CA2059476164

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917094_102917095delinsTG , CM000674.2:g.102917094_102917095delinsTG	GRCh38
NC_000012.11:g.103310872_103310873delinsTG , CM000674.1:g.103310872_103310873delinsTG	GRCh37
NC_000012.10:g.101835002_101835003delinsTG	NCBI36
NG_008690.1:g.5508_5509delinsCA
NG_008690.2:g.46316_46317delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.36_37delinsCA MANE Select	ENSP00000448059.1:p.Gly12=
ENST00000307000.7:c.-112_-111delinsCA	ENSP00000303500.2:n.-112_-111delinsCA
ENST00000546844.1:c.36_37delinsCA	ENSP00000446658.1:p.Gly12=
ENST00000547319.1:n.347_348delinsCA
ENST00000549111.5:n.132_133delinsCA
ENST00000550978.6:c.20_21delinsCA
ENST00000551337.5:c.36_37delinsCA	ENSP00000447620.1:p.Gly12=
ENST00000551988.5:n.125_126delinsCA
ENST00000553106.5:c.36_37delinsCA	ENSP00000448059.1:p.Gly12=
ENST00000635500.1:n.29-4197_29-4196delinsCA
NM_000277.1:c.36_37delinsCA	NP_000268.1:p.Gly12=
XM_011538422.1:c.36_37delinsCA	XP_011536724.1:p.Gly12=
NM_000277.2:c.36_37delinsCA	NP_000268.1:p.Gly12=
NM_001354304.1:c.36_37delinsCA	NP_001341233.1:p.Gly12=
XM_017019370.2:c.36_37delinsCA	XP_016874859.1:p.Gly12=
NM_000277.3:c.36_37delinsCA MANE Select	NP_000268.1:p.Gly12=
NM_001354304.2:c.36_37delinsCA	NP_001341233.1:p.Gly12=