Canonical Allele Identifier: CA16020944
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843725_102843726insA , CM000674.2:g.102843725_102843726insA GRCh38
NC_000012.11:g.103237503_103237504insA , CM000674.1:g.103237503_103237504insA GRCh37
NC_000012.10:g.101761633_101761634insA NCBI36
NG_008690.1:g.78877_78878insT
NG_008690.2:g.119685_119686insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1119_1120insT MANE Select ENSP00000448059.1:p.Ile374TyrfsTer20
ENST00000307000.7:c.1104_1105insT ENSP00000303500.2:p.Ile369TyrfsTer20
ENST00000549247.6:n.878_879insT
ENST00000551114.2:n.781_782insT
ENST00000553106.5:c.1119_1120insT ENSP00000448059.1:p.Ile374TyrfsTer20
ENST00000635477.1:c.223_224insT
ENST00000635528.1:n.634_635insT
NM_000277.1:c.1119_1120insT NP_000268.1:p.Ile374TyrfsTer20
XM_011538422.1:c.1062_1063insT XP_011536724.1:p.Ile355TyrfsTer20
NM_000277.2:c.1119_1120insT NP_000268.1:p.Ile374TyrfsTer20
NM_001354304.1:c.1119_1120insT NP_001341233.1:p.Ile374TyrfsTer20
NM_000277.3:c.1119_1120insT MANE Select NP_000268.1:p.Ile374TyrfsTer20
NM_001354304.2:c.1119_1120insT NP_001341233.1:p.Ile374TyrfsTer20
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