Canonical Allele Identifier: CA2059446077
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852819_102852820delinsCG , CM000674.2:g.102852819_102852820delinsCG GRCh38
NC_000012.11:g.103246597_103246598delinsCG , CM000674.1:g.103246597_103246598delinsCG GRCh37
NC_000012.10:g.101770727_101770728delinsCG NCBI36
NG_008690.1:g.69783_69784delinsCG
NG_008690.2:g.110591_110592delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.837_838delinsCG MANE Select ENSP00000448059.1:p.Pro279=
ENST00000307000.7:c.822_823delinsCG ENSP00000303500.2:p.Pro274=
ENST00000549247.6:n.596_597delinsCG
ENST00000553106.5:c.837_838delinsCG ENSP00000448059.1:p.Pro279=
NM_000277.1:c.837_838delinsCG NP_000268.1:p.Pro279=
XM_011538422.1:c.837_838delinsCG XP_011536724.1:p.Pro279=
NM_000277.2:c.837_838delinsCG NP_000268.1:p.Pro279=
NM_001354304.1:c.837_838delinsCG NP_001341233.1:p.Pro279=
NM_000277.3:c.837_838delinsCG MANE Select NP_000268.1:p.Pro279=
NM_001354304.2:c.837_838delinsCG NP_001341233.1:p.Pro279=