Canonical Allele Identifier: CA2059441378
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840395_102840401delinsCTTACTG , CM000674.2:g.102840395_102840401delinsCTTACTG GRCh38
NC_000012.11:g.103234173_103234179delinsCTTACTG , CM000674.1:g.103234173_103234179delinsCTTACTG GRCh37
NC_000012.10:g.101758303_101758309delinsCTTACTG NCBI36
NG_008690.1:g.82202_82208delinsCAGTAAG
NG_008690.2:g.123010_123016delinsCAGTAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1314_1315+5delinsCAGTAAG
ENST00000307000.7:c.1299_1300+5delinsCAGTAAG
ENST00000551114.2:n.976_977+5delinsCAGTAAG
ENST00000553106.5:c.1314_1315+5delinsCAGTAAG
ENST00000635477.1:n.418_419+5delinsCAGTAAG
ENST00000635528.1:n.829_830+5delinsCAGTAAG
NM_000277.1:c.1314_1315+5delinsCAGTAAG
XM_011538422.1:c.1257_1258+5delinsCAGTAAG
NM_000277.2:c.1314_1315+5delinsCAGTAAG
NM_001354304.1:c.1314_1315+5delinsCAGTAAG
NM_000277.3:c.1314_1315+5delinsCAGTAAG
NM_001354304.2:c.1314_1315+5delinsCAGTAAG