Canonical Allele Identifier: CA2059446785
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843756_102843758delinsCTT , CM000674.2:g.102843756_102843758delinsCTT GRCh38
NC_000012.11:g.103237534_103237536delinsCTT , CM000674.1:g.103237534_103237536delinsCTT GRCh37
NC_000012.10:g.101761664_101761666delinsCTT NCBI36
NG_008690.1:g.78845_78847delinsAAG
NG_008690.2:g.119653_119655delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1087_1089delinsAAG MANE Select ENSP00000448059.1:p.Lys363=
ENST00000307000.7:c.1072_1074delinsAAG ENSP00000303500.2:p.Lys358=
ENST00000549247.6:n.846_848delinsAAG
ENST00000551114.2:n.749_751delinsAAG
ENST00000553106.5:c.1087_1089delinsAAG ENSP00000448059.1:p.Lys363=
ENST00000635477.1:c.191_193delinsAAG
ENST00000635528.1:n.602_604delinsAAG
NM_000277.1:c.1087_1089delinsAAG NP_000268.1:p.Lys363=
XM_011538422.1:c.1030_1032delinsAAG XP_011536724.1:p.Lys344=
NM_000277.2:c.1087_1089delinsAAG NP_000268.1:p.Lys363=
NM_001354304.1:c.1087_1089delinsAAG NP_001341233.1:p.Lys363=
NM_000277.3:c.1087_1089delinsAAG MANE Select NP_000268.1:p.Lys363=
NM_001354304.2:c.1087_1089delinsAAG NP_001341233.1:p.Lys363=
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