Canonical Allele Identifier: CA3045950932

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852945_102852946insACAAGTCT , CM000674.2:g.102852945_102852946insACAAGTCT	GRCh38
NC_000012.11:g.103246723_103246724insACAAGTCT , CM000674.1:g.103246723_103246724insACAAGTCT	GRCh37
NC_000012.10:g.101770853_101770854insACAAGTCT	NCBI36
NG_008690.1:g.69658_69659insGACTTGTA
NG_008690.2:g.110466_110467insGACTTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.712_713insGACTTGTA MANE Select	ENSP00000448059.1:p.Thr238ArgfsTer?
ENST00000307000.7:c.697_698insGACTTGTA	ENSP00000303500.2:p.Thr233ArgfsTer?
ENST00000549247.6:n.471_472insGACTTGTA
ENST00000553106.5:c.712_713insGACTTGTA	ENSP00000448059.1:p.Thr238ArgfsTer?
NM_000277.1:c.712_713insGACTTGTA	NP_000268.1:p.Thr238ArgfsTer?
XM_011538422.1:c.712_713insGACTTGTA	XP_011536724.1:p.Thr238ArgfsTer?
NM_000277.2:c.712_713insGACTTGTA	NP_000268.1:p.Thr238ArgfsTer?
NM_001354304.1:c.712_713insGACTTGTA	NP_001341233.1:p.Thr238ArgfsTer?
NM_000277.3:c.712_713insGACTTGTA MANE Select	NP_000268.1:p.Thr238ArgfsTer?
NM_001354304.2:c.712_713insGACTTGTA	NP_001341233.1:p.Thr238ArgfsTer?