Canonical Allele Identifier: CA2059446440
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843678_102843679delinsTG , CM000674.2:g.102843678_102843679delinsTG GRCh38
NC_000012.11:g.103237456_103237457delinsTG , CM000674.1:g.103237456_103237457delinsTG GRCh37
NC_000012.10:g.101761586_101761587delinsTG NCBI36
NG_008690.1:g.78924_78925delinsCA
NG_008690.2:g.119732_119733delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1166_1167delinsCA MANE Select ENSP00000448059.1:p.Ala389=
ENST00000307000.7:c.1151_1152delinsCA ENSP00000303500.2:p.Ala384=
ENST00000549247.6:n.925_926delinsCA
ENST00000551114.2:n.828_829delinsCA
ENST00000553106.5:c.1166_1167delinsCA ENSP00000448059.1:p.Ala389=
ENST00000635477.1:c.270_271delinsCA
ENST00000635528.1:n.681_682delinsCA
NM_000277.1:c.1166_1167delinsCA NP_000268.1:p.Ala389=
XM_011538422.1:c.1109_1110delinsCA XP_011536724.1:p.Ala370=
NM_000277.2:c.1166_1167delinsCA NP_000268.1:p.Ala389=
NM_001354304.1:c.1166_1167delinsCA NP_001341233.1:p.Ala389=
NM_000277.3:c.1166_1167delinsCA MANE Select NP_000268.1:p.Ala389=
NM_001354304.2:c.1166_1167delinsCA NP_001341233.1:p.Ala389=
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