Canonical Allele Identifier: CA2059446635

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843717_102843718delinsAT , CM000674.2:g.102843717_102843718delinsAT	GRCh38
NC_000012.11:g.103237495_103237496delinsAT , CM000674.1:g.103237495_103237496delinsAT	GRCh37
NC_000012.10:g.101761625_101761626delinsAT	NCBI36
NG_008690.1:g.78885_78886delinsAT
NG_008690.2:g.119693_119694delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1127_1128delinsAT MANE Select	ENSP00000448059.1:p.Asn376=
ENST00000307000.7:c.1112_1113delinsAT	ENSP00000303500.2:p.Asn371=
ENST00000549247.6:n.886_887delinsAT
ENST00000551114.2:n.789_790delinsAT
ENST00000553106.5:c.1127_1128delinsAT	ENSP00000448059.1:p.Asn376=
ENST00000635477.1:c.231_232delinsAT
ENST00000635528.1:n.642_643delinsAT
NM_000277.1:c.1127_1128delinsAT	NP_000268.1:p.Asn376=
XM_011538422.1:c.1070_1071delinsAT	XP_011536724.1:p.Asn357=
NM_000277.2:c.1127_1128delinsAT	NP_000268.1:p.Asn376=
NM_001354304.1:c.1127_1128delinsAT	NP_001341233.1:p.Asn376=
NM_000277.3:c.1127_1128delinsAT MANE Select	NP_000268.1:p.Asn376=
NM_001354304.2:c.1127_1128delinsAT	NP_001341233.1:p.Asn376=