Canonical Allele Identifier: CA2059444061

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851471_102851472delinsAT , CM000674.2:g.102851471_102851472delinsAT	GRCh38
NC_000012.11:g.103245249_103245250delinsAT , CM000674.1:g.103245249_103245250delinsAT	GRCh37
NC_000012.10:g.101769379_101769380delinsAT	NCBI36
NG_008690.1:g.71131_71132delinsAT
NG_008690.2:g.111939_111940delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+215_912+216delinsAT MANE Select	ENSP00000448059.1:n.912+215_912+216delinsAT
ENST00000307000.7:c.897+215_897+216delinsAT	ENSP00000303500.2:n.897+215_897+216delinsAT
ENST00000549247.6:n.671+215_671+216delinsAT
ENST00000551114.2:n.574+215_574+216delinsAT
ENST00000553106.5:c.912+215_912+216delinsAT	ENSP00000448059.1:n.912+215_912+216delinsAT
ENST00000635477.1:c.73+215_73+216delinsAT
NM_000277.1:c.912+215_912+216delinsAT	NP_000268.1:n.912+215_912+216delinsAT
XM_011538422.1:c.912+215_912+216delinsAT	XP_011536724.1:n.912+215_912+216delinsAT
NM_000277.2:c.912+215_912+216delinsAT	NP_000268.1:n.912+215_912+216delinsAT
NM_001354304.1:c.912+215_912+216delinsAT	NP_001341233.1:n.912+215_912+216delinsAT
NM_000277.3:c.912+215_912+216delinsAT MANE Select	NP_000268.1:n.912+215_912+216delinsAT
NM_001354304.2:c.912+215_912+216delinsAT	NP_001341233.1:n.912+215_912+216delinsAT