Canonical Allele Identifier: CA2059441948

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840494_102840495delinsAG , CM000674.2:g.102840494_102840495delinsAG	GRCh38
NC_000012.11:g.103234272_103234273delinsAG , CM000674.1:g.103234272_103234273delinsAG	GRCh37
NC_000012.10:g.101758402_101758403delinsAG	NCBI36
NG_008690.1:g.82108_82109delinsCT
NG_008690.2:g.122916_122917delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1220_1221delinsCT MANE Select	ENSP00000448059.1:p.Pro407=
ENST00000307000.7:c.1205_1206delinsCT	ENSP00000303500.2:p.Pro402=
ENST00000551114.2:n.882_883delinsCT
ENST00000553106.5:c.1220_1221delinsCT	ENSP00000448059.1:p.Pro407=
ENST00000635477.1:c.324_325delinsCT
ENST00000635528.1:n.735_736delinsCT
NM_000277.1:c.1220_1221delinsCT	NP_000268.1:p.Pro407=
XM_011538422.1:c.1163_1164delinsCT	XP_011536724.1:p.Pro388=
NM_000277.2:c.1220_1221delinsCT	NP_000268.1:p.Pro407=
NM_001354304.1:c.1220_1221delinsCT	NP_001341233.1:p.Pro407=
NM_000277.3:c.1220_1221delinsCT MANE Select	NP_000268.1:p.Pro407=
NM_001354304.2:c.1220_1221delinsCT	NP_001341233.1:p.Pro407=