Canonical Allele Identifier: CA2059446757
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843750_102843753delinsGAGA , CM000674.2:g.102843750_102843753delinsGAGA GRCh38
NC_000012.11:g.103237528_103237531delinsGAGA , CM000674.1:g.103237528_103237531delinsGAGA GRCh37
NC_000012.10:g.101761658_101761661delinsGAGA NCBI36
NG_008690.1:g.78850_78853delinsTCTC
NG_008690.2:g.119658_119661delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1092_1095delinsTCTC MANE Select ENSP00000448059.1:p.Leu364=
ENST00000307000.7:c.1077_1080delinsTCTC ENSP00000303500.2:p.Leu359=
ENST00000549247.6:n.851_854delinsTCTC
ENST00000551114.2:n.754_757delinsTCTC
ENST00000553106.5:c.1092_1095delinsTCTC ENSP00000448059.1:p.Leu364=
ENST00000635477.1:c.196_199delinsTCTC
ENST00000635528.1:n.607_610delinsTCTC
NM_000277.1:c.1092_1095delinsTCTC NP_000268.1:p.Leu364=
XM_011538422.1:c.1035_1038delinsTCTC XP_011536724.1:p.Leu345=
NM_000277.2:c.1092_1095delinsTCTC NP_000268.1:p.Leu364=
NM_001354304.1:c.1092_1095delinsTCTC NP_001341233.1:p.Leu364=
NM_000277.3:c.1092_1095delinsTCTC MANE Select NP_000268.1:p.Leu364=
NM_001354304.2:c.1092_1095delinsTCTC NP_001341233.1:p.Leu364=