Canonical Allele Identifier: CA2059448537

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844424_102844425delinsCA , CM000674.2:g.102844424_102844425delinsCA	GRCh38
NC_000012.11:g.103238202_103238203delinsCA , CM000674.1:g.103238202_103238203delinsCA	GRCh37
NC_000012.10:g.101762332_101762333delinsCA	NCBI36
NG_008690.1:g.78178_78179delinsTG
NG_008690.2:g.118986_118987delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.976_977delinsTG MANE Select	ENSP00000448059.1:p.Trp326=
ENST00000307000.7:c.961_962delinsTG	ENSP00000303500.2:p.Trp321=
ENST00000549247.6:n.735_736delinsTG
ENST00000551114.2:n.638_639delinsTG
ENST00000553106.5:c.976_977delinsTG	ENSP00000448059.1:p.Trp326=
ENST00000635477.1:c.80_81delinsTG
ENST00000635528.1:n.491_492delinsTG
NM_000277.1:c.976_977delinsTG	NP_000268.1:p.Trp326=
XM_011538422.1:c.919_920delinsTG	XP_011536724.1:p.Trp307=
NM_000277.2:c.976_977delinsTG	NP_000268.1:p.Trp326=
NM_001354304.1:c.976_977delinsTG	NP_001341233.1:p.Trp326=
NM_000277.3:c.976_977delinsTG MANE Select	NP_000268.1:p.Trp326=
NM_001354304.2:c.976_977delinsTG	NP_001341233.1:p.Trp326=