Canonical Allele Identifier: CA2059441961

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840495_102840500delinsGGTATT , CM000674.2:g.102840495_102840500delinsGGTATT	GRCh38
NC_000012.11:g.103234273_103234278delinsGGTATT , CM000674.1:g.103234273_103234278delinsGGTATT	GRCh37
NC_000012.10:g.101758403_101758408delinsGGTATT	NCBI36
NG_008690.1:g.82103_82108delinsAATACC
NG_008690.2:g.122911_122916delinsAATACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1215_1220delinsAATACC MANE Select	ENSP00000448059.1:p.Thr405=
ENST00000307000.7:c.1200_1205delinsAATACC	ENSP00000303500.2:p.Thr400=
ENST00000551114.2:n.877_882delinsAATACC
ENST00000553106.5:c.1215_1220delinsAATACC	ENSP00000448059.1:p.Thr405=
ENST00000635477.1:c.319_324delinsAATACC
ENST00000635528.1:n.730_735delinsAATACC
NM_000277.1:c.1215_1220delinsAATACC	NP_000268.1:p.Thr405=
XM_011538422.1:c.1158_1163delinsAATACC	XP_011536724.1:p.Thr386=
NM_000277.2:c.1215_1220delinsAATACC	NP_000268.1:p.Thr405=
NM_001354304.1:c.1215_1220delinsAATACC	NP_001341233.1:p.Thr405=
NM_000277.3:c.1215_1220delinsAATACC MANE Select	NP_000268.1:p.Thr405=
NM_001354304.2:c.1215_1220delinsAATACC	NP_001341233.1:p.Thr405=