Canonical Allele Identifier: CA2059476226

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917229_102917232delinsGGGA , CM000674.2:g.102917229_102917232delinsGGGA	GRCh38
NC_000012.11:g.103311007_103311010delinsGGGA , CM000674.1:g.103311007_103311010delinsGGGA	GRCh37
NC_000012.10:g.101835137_101835140delinsGGGA	NCBI36
NG_008690.1:g.5371_5374delinsTCCC
NG_008690.2:g.46179_46182delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-102_-99delinsTCCC MANE Select	ENSP00000448059.1:n.-102_-99delinsTCCC
ENST00000307000.7:c.-249_-246delinsTCCC	ENSP00000303500.2:n.-249_-246delinsTCCC
ENST00000546708.5:n.493-7_493-4delinsTCCC
ENST00000546844.1:c.-95-7_-95-4delinsTCCC	ENSP00000446658.1:n.-95-7_-95-4delinsTCCC
ENST00000547319.1:n.217-7_217-4delinsTCCC
ENST00000551337.5:c.-95-7_-95-4delinsTCCC	ENSP00000447620.1:n.-95-7_-95-4delinsTCCC
ENST00000553106.5:c.-102_-99delinsTCCC	ENSP00000448059.1:n.-102_-99delinsTCCC
ENST00000635500.1:n.29-4334_29-4331delinsTCCC
NM_000277.1:c.-102_-99delinsTCCC	NP_000268.1:n.-102_-99delinsTCCC
XM_011538422.1:c.-102_-99delinsTCCC	XP_011536724.1:n.-102_-99delinsTCCC
NM_000277.2:c.-102_-99delinsTCCC	NP_000268.1:n.-102_-99delinsTCCC
NM_001354304.1:c.-95-7_-95-4delinsTCCC	NP_001341233.1:n.-95-7_-95-4delinsTCCC
XM_017019370.2:c.-102_-99delinsTCCC	XP_016874859.1:n.-102_-99delinsTCCC
NM_000277.3:c.-102_-99delinsTCCC MANE Select	NP_000268.1:n.-102_-99delinsTCCC
NM_001354304.2:c.-95-7_-95-4delinsTCCC	NP_001341233.1:n.-95-7_-95-4delinsTCCC