Canonical Allele Identifier: CA2059467176
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894902_102894903delinsAG , CM000674.2:g.102894902_102894903delinsAG GRCh38
NC_000012.11:g.103288680_103288681delinsAG , CM000674.1:g.103288680_103288681delinsAG GRCh37
NC_000012.10:g.101812810_101812811delinsAG NCBI36
NG_008690.1:g.27700_27701delinsCT
NG_008690.2:g.68508_68509delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.184_185delinsCT MANE Select ENSP00000448059.1:p.Leu62=
ENST00000307000.7:c.169_170delinsCT ENSP00000303500.2:p.Leu57=
ENST00000546844.1:c.184_185delinsCT ENSP00000446658.1:p.Leu62=
ENST00000548677.2:n.271_272delinsCT
ENST00000548928.1:n.106_107delinsCT
ENST00000549111.5:n.280_281delinsCT
ENST00000550978.6:c.168_169delinsCT
ENST00000551337.5:c.184_185delinsCT ENSP00000447620.1:p.Leu62=
ENST00000551988.5:n.273_274delinsCT
ENST00000553106.5:c.184_185delinsCT ENSP00000448059.1:p.Leu62=
ENST00000635500.1:n.152_153delinsCT
NM_000277.1:c.184_185delinsCT NP_000268.1:p.Leu62=
XM_011538422.1:c.184_185delinsCT XP_011536724.1:p.Leu62=
NM_000277.2:c.184_185delinsCT NP_000268.1:p.Leu62=
NM_001354304.1:c.184_185delinsCT NP_001341233.1:p.Leu62=
XM_017019370.2:c.184_185delinsCT XP_016874859.1:p.Leu62=
NM_000277.3:c.184_185delinsCT MANE Select NP_000268.1:p.Leu62=
NM_001354304.2:c.184_185delinsCT NP_001341233.1:p.Leu62=
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