Canonical Allele Identifier: CA2059446614

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843715_102843716delinsTA , CM000674.2:g.102843715_102843716delinsTA	GRCh38
NC_000012.11:g.103237493_103237494delinsTA , CM000674.1:g.103237493_103237494delinsTA	GRCh37
NC_000012.10:g.101761623_101761624delinsTA	NCBI36
NG_008690.1:g.78887_78888delinsTA
NG_008690.2:g.119695_119696delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1129_1130delinsTA MANE Select	ENSP00000448059.1:p.Tyr377=
ENST00000307000.7:c.1114_1115delinsTA	ENSP00000303500.2:p.Tyr372=
ENST00000549247.6:n.888_889delinsTA
ENST00000551114.2:n.791_792delinsTA
ENST00000553106.5:c.1129_1130delinsTA	ENSP00000448059.1:p.Tyr377=
ENST00000635477.1:c.233_234delinsTA
ENST00000635528.1:n.644_645delinsTA
NM_000277.1:c.1129_1130delinsTA	NP_000268.1:p.Tyr377=
XM_011538422.1:c.1072_1073delinsTA	XP_011536724.1:p.Tyr358=
NM_000277.2:c.1129_1130delinsTA	NP_000268.1:p.Tyr377=
NM_001354304.1:c.1129_1130delinsTA	NP_001341233.1:p.Tyr377=
NM_000277.3:c.1129_1130delinsTA MANE Select	NP_000268.1:p.Tyr377=
NM_001354304.2:c.1129_1130delinsTA	NP_001341233.1:p.Tyr377=