Canonical Allele Identifier: CA2059467141

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894897_102894900delinsGGGT , CM000674.2:g.102894897_102894900delinsGGGT	GRCh38
NC_000012.11:g.103288675_103288678delinsGGGT , CM000674.1:g.103288675_103288678delinsGGGT	GRCh37
NC_000012.10:g.101812805_101812808delinsGGGT	NCBI36
NG_008690.1:g.27703_27706delinsACCC
NG_008690.2:g.68511_68514delinsACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.187_190delinsACCC MANE Select	ENSP00000448059.1:p.Thr63=
ENST00000307000.7:c.172_175delinsACCC	ENSP00000303500.2:p.Thr58=
ENST00000546844.1:c.187_190delinsACCC	ENSP00000446658.1:p.Thr63=
ENST00000548677.2:n.274_277delinsACCC
ENST00000548928.1:n.109_112delinsACCC
ENST00000549111.5:n.283_286delinsACCC
ENST00000550978.6:c.171_174delinsACCC
ENST00000551337.5:c.187_190delinsACCC	ENSP00000447620.1:p.Thr63=
ENST00000551988.5:n.276_279delinsACCC
ENST00000553106.5:c.187_190delinsACCC	ENSP00000448059.1:p.Thr63=
ENST00000635500.1:n.155_158delinsACCC
NM_000277.1:c.187_190delinsACCC	NP_000268.1:p.Thr63=
XM_011538422.1:c.187_190delinsACCC	XP_011536724.1:p.Thr63=
NM_000277.2:c.187_190delinsACCC	NP_000268.1:p.Thr63=
NM_001354304.1:c.187_190delinsACCC	NP_001341233.1:p.Thr63=
XM_017019370.2:c.187_190delinsACCC	XP_016874859.1:p.Thr63=
NM_000277.3:c.187_190delinsACCC MANE Select	NP_000268.1:p.Thr63=
NM_001354304.2:c.187_190delinsACCC	NP_001341233.1:p.Thr63=