Canonical Allele Identifier: CA2695217170
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894870_102894871insG , CM000674.2:g.102894870_102894871insG GRCh38
NC_000012.11:g.103288648_103288649insG , CM000674.1:g.103288648_103288649insG GRCh37
NC_000012.10:g.101812778_101812779insG NCBI36
NG_008690.1:g.27732_27733insC
NG_008690.2:g.68540_68541insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.216_217insC MANE Select ENSP00000448059.1:p.Lys73GlnfsTer4
ENST00000307000.7:c.201_202insC ENSP00000303500.2:p.Lys68GlnfsTer4
ENST00000546844.1:c.216_217insC ENSP00000446658.1:p.Lys73GlnfsTer4
ENST00000548677.2:n.303_304insC
ENST00000548928.1:n.138_139insC
ENST00000549111.5:n.312_313insC
ENST00000550978.6:c.200_201insC
ENST00000551337.5:c.216_217insC ENSP00000447620.1:p.Lys73GlnfsTer4
ENST00000551988.5:n.305_306insC
ENST00000553106.5:c.216_217insC ENSP00000448059.1:p.Lys73GlnfsTer4
ENST00000635500.1:n.184_185insC
NM_000277.1:c.216_217insC NP_000268.1:p.Lys73GlnfsTer4
XM_011538422.1:c.216_217insC XP_011536724.1:p.Lys73GlnfsTer4
NM_000277.2:c.216_217insC NP_000268.1:p.Lys73GlnfsTer4
NM_001354304.1:c.216_217insC NP_001341233.1:p.Lys73GlnfsTer4
XM_017019370.2:c.216_217insC XP_016874859.1:p.Lys73GlnfsTer4
NM_000277.3:c.216_217insC MANE Select NP_000268.1:p.Lys73GlnfsTer4
NM_001354304.2:c.216_217insC NP_001341233.1:p.Lys73GlnfsTer4
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