Canonical Allele Identifier: CA2059442098
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840514_102840515delinsTC , CM000674.2:g.102840514_102840515delinsTC GRCh38
NC_000012.11:g.103234292_103234293delinsTC , CM000674.1:g.103234292_103234293delinsTC GRCh37
NC_000012.10:g.101758422_101758423delinsTC NCBI36
NG_008690.1:g.82088_82089delinsGA
NG_008690.2:g.122896_122897delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200_1201delinsGA MANE Select ENSP00000448059.1:p.Arg400=
ENST00000307000.7:c.1185_1186delinsGA ENSP00000303500.2:p.Arg395=
ENST00000549247.6:n.959_960delinsGA
ENST00000551114.2:n.862_863delinsGA
ENST00000553106.5:c.1200_1201delinsGA ENSP00000448059.1:p.Arg400=
ENST00000635477.1:c.304_305delinsGA
ENST00000635528.1:n.715_716delinsGA
NM_000277.1:c.1200_1201delinsGA NP_000268.1:p.Arg400=
XM_011538422.1:c.1143_1144delinsGA XP_011536724.1:p.Arg381=
NM_000277.2:c.1200_1201delinsGA NP_000268.1:p.Arg400=
NM_001354304.1:c.1200_1201delinsGA NP_001341233.1:p.Arg400=
NM_000277.3:c.1200_1201delinsGA MANE Select NP_000268.1:p.Arg400=
NM_001354304.2:c.1200_1201delinsGA NP_001341233.1:p.Arg400=
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