Canonical Allele Identifier: CA2059446570

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852911_102852912delinsAG , CM000674.2:g.102852911_102852912delinsAG	GRCh38
NC_000012.11:g.103246689_103246690delinsAG , CM000674.1:g.103246689_103246690delinsAG	GRCh37
NC_000012.10:g.101770819_101770820delinsAG	NCBI36
NG_008690.1:g.69691_69692delinsCT
NG_008690.2:g.110499_110500delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.745_746delinsCT MANE Select	ENSP00000448059.1:p.Leu249=
ENST00000307000.7:c.730_731delinsCT	ENSP00000303500.2:p.Leu244=
ENST00000549247.6:n.504_505delinsCT
ENST00000553106.5:c.745_746delinsCT	ENSP00000448059.1:p.Leu249=
NM_000277.1:c.745_746delinsCT	NP_000268.1:p.Leu249=
XM_011538422.1:c.745_746delinsCT	XP_011536724.1:p.Leu249=
NM_000277.2:c.745_746delinsCT	NP_000268.1:p.Leu249=
NM_001354304.1:c.745_746delinsCT	NP_001341233.1:p.Leu249=
NM_000277.3:c.745_746delinsCT MANE Select	NP_000268.1:p.Leu249=
NM_001354304.2:c.745_746delinsCT	NP_001341233.1:p.Leu249=