Canonical Allele Identifier: CA2059473317
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912803_102912804delinsCA , CM000674.2:g.102912803_102912804delinsCA GRCh38
NC_000012.11:g.103306581_103306582delinsCA , CM000674.1:g.103306581_103306582delinsCA GRCh37
NC_000012.10:g.101830711_101830712delinsCA NCBI36
NG_008690.1:g.9799_9800delinsTG
NG_008690.2:g.50607_50608delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.155_156delinsTG MANE Select ENSP00000448059.1:p.Leu52=
ENST00000307000.7:c.140_141delinsTG ENSP00000303500.2:p.Leu47=
ENST00000546844.1:c.155_156delinsTG ENSP00000446658.1:p.Leu52=
ENST00000548677.2:n.242_243delinsTG
ENST00000548928.1:n.77_78delinsTG
ENST00000549111.5:n.251_252delinsTG
ENST00000550978.6:c.139_140delinsTG
ENST00000551337.5:c.155_156delinsTG ENSP00000447620.1:p.Leu52=
ENST00000551988.5:n.244_245delinsTG
ENST00000553106.5:c.155_156delinsTG ENSP00000448059.1:p.Leu52=
ENST00000635500.1:n.123_124delinsTG
NM_000277.1:c.155_156delinsTG NP_000268.1:p.Leu52=
XM_011538422.1:c.155_156delinsTG XP_011536724.1:p.Leu52=
NM_000277.2:c.155_156delinsTG NP_000268.1:p.Leu52=
NM_001354304.1:c.155_156delinsTG NP_001341233.1:p.Leu52=
XM_017019370.2:c.155_156delinsTG XP_016874859.1:p.Leu52=
NM_000277.3:c.155_156delinsTG MANE Select NP_000268.1:p.Leu52=
NM_001354304.2:c.155_156delinsTG NP_001341233.1:p.Leu52=
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