Canonical Allele Identifier: CA2059467252
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894915_102894918delinsTCTC , CM000674.2:g.102894915_102894918delinsTCTC GRCh38
NC_000012.11:g.103288693_103288696delinsTCTC , CM000674.1:g.103288693_103288696delinsTCTC GRCh37
NC_000012.10:g.101812823_101812826delinsTCTC NCBI36
NG_008690.1:g.27685_27688delinsGAGA
NG_008690.2:g.68493_68496delinsGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169_172delinsGAGA MANE Select ENSP00000448059.1:p.Glu57=
ENST00000307000.7:c.154_157delinsGAGA ENSP00000303500.2:p.Glu52=
ENST00000546844.1:c.169_172delinsGAGA ENSP00000446658.1:p.Glu57=
ENST00000548677.2:n.256_259delinsGAGA
ENST00000548928.1:n.91_94delinsGAGA
ENST00000549111.5:n.265_268delinsGAGA
ENST00000550978.6:c.153_156delinsGAGA
ENST00000551337.5:c.169_172delinsGAGA ENSP00000447620.1:p.Glu57=
ENST00000551988.5:n.258_261delinsGAGA
ENST00000553106.5:c.169_172delinsGAGA ENSP00000448059.1:p.Glu57=
ENST00000635500.1:n.137_140delinsGAGA
NM_000277.1:c.169_172delinsGAGA NP_000268.1:p.Glu57=
XM_011538422.1:c.169_172delinsGAGA XP_011536724.1:p.Glu57=
NM_000277.2:c.169_172delinsGAGA NP_000268.1:p.Glu57=
NM_001354304.1:c.169_172delinsGAGA NP_001341233.1:p.Glu57=
XM_017019370.2:c.169_172delinsGAGA XP_016874859.1:p.Glu57=
NM_000277.3:c.169_172delinsGAGA MANE Select NP_000268.1:p.Glu57=
NM_001354304.2:c.169_172delinsGAGA NP_001341233.1:p.Glu57=