Canonical Allele Identifier: CA2059446711
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843745_102843746delinsAG , CM000674.2:g.102843745_102843746delinsAG GRCh38
NC_000012.11:g.103237523_103237524delinsAG , CM000674.1:g.103237523_103237524delinsAG GRCh37
NC_000012.10:g.101761653_101761654delinsAG NCBI36
NG_008690.1:g.78857_78858delinsCT
NG_008690.2:g.119665_119666delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1099_1100delinsCT MANE Select ENSP00000448059.1:p.Leu367=
ENST00000307000.7:c.1084_1085delinsCT ENSP00000303500.2:p.Leu362=
ENST00000549247.6:n.858_859delinsCT
ENST00000551114.2:n.761_762delinsCT
ENST00000553106.5:c.1099_1100delinsCT ENSP00000448059.1:p.Leu367=
ENST00000635477.1:c.203_204delinsCT
ENST00000635528.1:n.614_615delinsCT
NM_000277.1:c.1099_1100delinsCT NP_000268.1:p.Leu367=
XM_011538422.1:c.1042_1043delinsCT XP_011536724.1:p.Leu348=
NM_000277.2:c.1099_1100delinsCT NP_000268.1:p.Leu367=
NM_001354304.1:c.1099_1100delinsCT NP_001341233.1:p.Leu367=
NM_000277.3:c.1099_1100delinsCT MANE Select NP_000268.1:p.Leu367=
NM_001354304.2:c.1099_1100delinsCT NP_001341233.1:p.Leu367=
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