Canonical Allele Identifier: CA2059467245
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894914_102894916delinsTTC , CM000674.2:g.102894914_102894916delinsTTC GRCh38
NC_000012.11:g.103288692_103288694delinsTTC , CM000674.1:g.103288692_103288694delinsTTC GRCh37
NC_000012.10:g.101812822_101812824delinsTTC NCBI36
NG_008690.1:g.27687_27689delinsGAA
NG_008690.2:g.68495_68497delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.171_173delinsGAA MANE Select ENSP00000448059.1:p.Glu57=
ENST00000307000.7:c.156_158delinsGAA ENSP00000303500.2:p.Glu52=
ENST00000546844.1:c.171_173delinsGAA ENSP00000446658.1:p.Glu57=
ENST00000548677.2:n.258_260delinsGAA
ENST00000548928.1:n.93_95delinsGAA
ENST00000549111.5:n.267_269delinsGAA
ENST00000550978.6:c.155_157delinsGAA
ENST00000551337.5:c.171_173delinsGAA ENSP00000447620.1:p.Glu57=
ENST00000551988.5:n.260_262delinsGAA
ENST00000553106.5:c.171_173delinsGAA ENSP00000448059.1:p.Glu57=
ENST00000635500.1:n.139_141delinsGAA
NM_000277.1:c.171_173delinsGAA NP_000268.1:p.Glu57=
XM_011538422.1:c.171_173delinsGAA XP_011536724.1:p.Glu57=
NM_000277.2:c.171_173delinsGAA NP_000268.1:p.Glu57=
NM_001354304.1:c.171_173delinsGAA NP_001341233.1:p.Glu57=
XM_017019370.2:c.171_173delinsGAA XP_016874859.1:p.Glu57=
NM_000277.3:c.171_173delinsGAA MANE Select NP_000268.1:p.Glu57=
NM_001354304.2:c.171_173delinsGAA NP_001341233.1:p.Glu57=
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