Canonical Allele Identifier: CA2059446527

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843691_102843692delinsAG , CM000674.2:g.102843691_102843692delinsAG	GRCh38
NC_000012.11:g.103237469_103237470delinsAG , CM000674.1:g.103237469_103237470delinsAG	GRCh37
NC_000012.10:g.101761599_101761600delinsAG	NCBI36
NG_008690.1:g.78911_78912delinsCT
NG_008690.2:g.119719_119720delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1153_1154delinsCT MANE Select	ENSP00000448059.1:p.Leu385=
ENST00000307000.7:c.1138_1139delinsCT	ENSP00000303500.2:p.Leu380=
ENST00000549247.6:n.912_913delinsCT
ENST00000551114.2:n.815_816delinsCT
ENST00000553106.5:c.1153_1154delinsCT	ENSP00000448059.1:p.Leu385=
ENST00000635477.1:c.257_258delinsCT
ENST00000635528.1:n.668_669delinsCT
NM_000277.1:c.1153_1154delinsCT	NP_000268.1:p.Leu385=
XM_011538422.1:c.1096_1097delinsCT	XP_011536724.1:p.Leu366=
NM_000277.2:c.1153_1154delinsCT	NP_000268.1:p.Leu385=
NM_001354304.1:c.1153_1154delinsCT	NP_001341233.1:p.Leu385=
NM_000277.3:c.1153_1154delinsCT MANE Select	NP_000268.1:p.Leu385=
NM_001354304.2:c.1153_1154delinsCT	NP_001341233.1:p.Leu385=