Canonical Allele Identifier: CA16020860

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852860_102852861delinsTC , CM000674.2:g.102852860_102852861delinsTC	GRCh38
NC_000012.11:g.103246638_103246639delinsTC , CM000674.1:g.103246638_103246639delinsTC	GRCh37
NC_000012.10:g.101770768_101770769delinsTC	NCBI36
NG_008690.1:g.69742_69743delinsGA
NG_008690.2:g.110550_110551delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.796_797delinsGA MANE Select	ENSP00000448059.1:p.Thr266Glu
ENST00000307000.7:c.781_782delinsGA	ENSP00000303500.2:p.Thr261Glu
ENST00000549247.6:n.555_556delinsGA
ENST00000553106.5:c.796_797delinsGA	ENSP00000448059.1:p.Thr266Glu
NM_000277.1:c.796_797delinsGA	NP_000268.1:p.Thr266Glu
XM_011538422.1:c.796_797delinsGA	XP_011536724.1:p.Thr266Glu
NM_000277.2:c.796_797delinsGA	NP_000268.1:p.Thr266Glu
NM_001354304.1:c.796_797delinsGA	NP_001341233.1:p.Thr266Glu
NM_000277.3:c.796_797delinsGA MANE Select	NP_000268.1:p.Thr266Glu
NM_001354304.2:c.796_797delinsGA	NP_001341233.1:p.Thr266Glu