Canonical Allele Identifier: CA2059444411

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851701_102851704delinsCAAA , CM000674.2:g.102851701_102851704delinsCAAA	GRCh38
NC_000012.11:g.103245479_103245482delinsCAAA , CM000674.1:g.103245479_103245482delinsCAAA	GRCh37
NC_000012.10:g.101769609_101769612delinsCAAA	NCBI36
NG_008690.1:g.70899_70902delinsTTTG
NG_008690.2:g.111707_111710delinsTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.895_898delinsTTTG MANE Select	ENSP00000448059.1:p.Phe299=
ENST00000307000.7:c.880_883delinsTTTG	ENSP00000303500.2:p.Phe294=
ENST00000549247.6:n.654_657delinsTTTG
ENST00000551114.2:n.557_560delinsTTTG
ENST00000553106.5:c.895_898delinsTTTG	ENSP00000448059.1:p.Phe299=
ENST00000635477.1:c.56_59delinsTTTG
NM_000277.1:c.895_898delinsTTTG	NP_000268.1:p.Phe299=
XM_011538422.1:c.895_898delinsTTTG	XP_011536724.1:p.Phe299=
NM_000277.2:c.895_898delinsTTTG	NP_000268.1:p.Phe299=
NM_001354304.1:c.895_898delinsTTTG	NP_001341233.1:p.Phe299=
NM_000277.3:c.895_898delinsTTTG MANE Select	NP_000268.1:p.Phe299=
NM_001354304.2:c.895_898delinsTTTG	NP_001341233.1:p.Phe299=