Canonical Allele Identifier: CA2059451488

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846947_102846948delinsAT , CM000674.2:g.102846947_102846948delinsAT	GRCh38
NC_000012.11:g.103240725_103240726delinsAT , CM000674.1:g.103240725_103240726delinsAT	GRCh37
NC_000012.10:g.101764855_101764856delinsAT	NCBI36
NG_008690.1:g.75655_75656delinsAT
NG_008690.2:g.116463_116464delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.916_917delinsAT MANE Select	ENSP00000448059.1:p.Ile306=
ENST00000307000.7:c.901_902delinsAT	ENSP00000303500.2:p.Ile301=
ENST00000549247.6:n.675_676delinsAT
ENST00000551114.2:n.578_579delinsAT
ENST00000553106.5:c.916_917delinsAT	ENSP00000448059.1:p.Ile306=
ENST00000635477.1:c.74-2517_74-2516delinsAT
ENST00000635528.1:n.431_432delinsAT
NM_000277.1:c.916_917delinsAT	NP_000268.1:p.Ile306=
XM_011538422.1:c.913-2517_913-2516delinsAT	XP_011536724.1:n.913-2517_913-2516delinsAT
NM_000277.2:c.916_917delinsAT	NP_000268.1:p.Ile306=
NM_001354304.1:c.916_917delinsAT	NP_001341233.1:p.Ile306=
NM_000277.3:c.916_917delinsAT MANE Select	NP_000268.1:p.Ile306=
NM_001354304.2:c.916_917delinsAT	NP_001341233.1:p.Ile306=