Canonical Allele Identifier: CA2059466714

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894802_102894803delinsGA , CM000674.2:g.102894802_102894803delinsGA	GRCh38
NC_000012.11:g.103288580_103288581delinsGA , CM000674.1:g.103288580_103288581delinsGA	GRCh37
NC_000012.10:g.101812710_101812711delinsGA	NCBI36
NG_008690.1:g.27800_27801delinsTC
NG_008690.2:g.68608_68609delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.284_285delinsTC MANE Select	ENSP00000448059.1:p.Ile95=
ENST00000307000.7:c.269_270delinsTC	ENSP00000303500.2:p.Ile90=
ENST00000546844.1:c.284_285delinsTC	ENSP00000446658.1:p.Ile95=
ENST00000548677.2:n.371_372delinsTC
ENST00000548928.1:n.206_207delinsTC
ENST00000549111.5:n.380_381delinsTC
ENST00000550978.6:c.268_269delinsTC
ENST00000551337.5:c.284_285delinsTC	ENSP00000447620.1:p.Ile95=
ENST00000551988.5:n.373_374delinsTC
ENST00000553106.5:c.284_285delinsTC	ENSP00000448059.1:p.Ile95=
NM_000277.1:c.284_285delinsTC	NP_000268.1:p.Ile95=
XM_011538422.1:c.284_285delinsTC	XP_011536724.1:p.Ile95=
NM_000277.2:c.284_285delinsTC	NP_000268.1:p.Ile95=
NM_001354304.1:c.284_285delinsTC	NP_001341233.1:p.Ile95=
XM_017019370.2:c.284_285delinsTC	XP_016874859.1:p.Ile95=
NM_000277.3:c.284_285delinsTC MANE Select	NP_000268.1:p.Ile95=
NM_001354304.2:c.284_285delinsTC	NP_001341233.1:p.Ile95=