Canonical Allele Identifier: CA2059449741
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855296_102855299delinsTTCC , CM000674.2:g.102855296_102855299delinsTTCC GRCh38
NC_000012.11:g.103249074_103249077delinsTTCC , CM000674.1:g.103249074_103249077delinsTTCC GRCh37
NC_000012.10:g.101773204_101773207delinsTTCC NCBI36
NG_008690.1:g.67304_67307delinsGGAA
NG_008690.2:g.108112_108115delinsGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.543_546delinsGGAA MANE Select ENSP00000448059.1:p.Glu181=
ENST00000307000.7:c.528_531delinsGGAA ENSP00000303500.2:p.Glu176=
ENST00000549111.5:n.639_642delinsGGAA
ENST00000551988.5:n.564_567delinsGGAA
ENST00000553106.5:c.543_546delinsGGAA ENSP00000448059.1:p.Glu181=
NM_000277.1:c.543_546delinsGGAA NP_000268.1:p.Glu181=
XM_011538422.1:c.543_546delinsGGAA XP_011536724.1:p.Glu181=
NM_000277.2:c.543_546delinsGGAA NP_000268.1:p.Glu181=
NM_001354304.1:c.543_546delinsGGAA NP_001341233.1:p.Glu181=
XM_017019370.2:c.543_546delinsGGAA XP_016874859.1:p.Glu181=
NM_000277.3:c.543_546delinsGGAA MANE Select NP_000268.1:p.Glu181=
NM_001354304.2:c.543_546delinsGGAA NP_001341233.1:p.Glu181=
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