Canonical Allele Identifier: CA2059446289
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843646_102843647delinsCT , CM000674.2:g.102843646_102843647delinsCT GRCh38
NC_000012.11:g.103237424_103237425delinsCT , CM000674.1:g.103237424_103237425delinsCT GRCh37
NC_000012.10:g.101761554_101761555delinsCT NCBI36
NG_008690.1:g.78956_78957delinsAG
NG_008690.2:g.119764_119765delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1198_1199delinsAG MANE Select NP_000268.1:p.Arg400=
ENST00000553106.6:c.1198_1199delinsAG MANE Select ENSP00000448059.1:p.Arg400=
NM_000277.1:c.1198_1199delinsAG NP_000268.1:p.Arg400=
NM_000277.2:c.1198_1199delinsAG NP_000268.1:p.Arg400=
NM_001354304.1:c.1198_1199delinsAG NP_001341233.1:p.Arg400=
NM_001354304.2:c.1198_1199delinsAG NP_001341233.1:p.Arg400=
ENST00000307000.7:c.1183_1184delinsAG ENSP00000303500.2:p.Arg395=
ENST00000549247.6:n.957_958delinsAG
ENST00000551114.2:n.860_861delinsAG
ENST00000553106.5:c.1198_1199delinsAG ENSP00000448059.1:p.Arg400=
ENST00000635477.1:c.302_303delinsAG
ENST00000635528.1:n.713_714delinsAG
XM_011538422.1:c.1141_1142delinsAG XP_011536724.1:p.Arg381=
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