Canonical Allele Identifier: CA16020745
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894886_102894893del , CM000674.2:g.102894886_102894893del GRCh38
NC_000012.11:g.103288664_103288671del , CM000674.1:g.103288664_103288671del GRCh37
NC_000012.10:g.101812794_101812801del NCBI36
NG_008690.1:g.27710_27717del
NG_008690.2:g.68518_68525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.194_201del MANE Select ENSP00000448059.1:p.Ile65LysfsTer9
ENST00000307000.7:c.179_186del ENSP00000303500.2:p.Ile60LysfsTer9
ENST00000546844.1:c.194_201del ENSP00000446658.1:p.Ile65LysfsTer9
ENST00000548677.2:n.281_288del
ENST00000548928.1:n.116_123del
ENST00000549111.5:n.290_297del
ENST00000550978.6:c.178_185del
ENST00000551337.5:c.194_201del ENSP00000447620.1:p.Ile65LysfsTer9
ENST00000551988.5:n.283_290del
ENST00000553106.5:c.194_201del ENSP00000448059.1:p.Ile65LysfsTer9
ENST00000635500.1:n.162_169del
NM_000277.1:c.194_201del NP_000268.1:p.Ile65LysfsTer9
XM_011538422.1:c.194_201del XP_011536724.1:p.Ile65LysfsTer9
NM_000277.2:c.194_201del NP_000268.1:p.Ile65LysfsTer9
NM_001354304.1:c.194_201del NP_001341233.1:p.Ile65LysfsTer9
XM_017019370.2:c.194_201del XP_016874859.1:p.Ile65LysfsTer9
NM_000277.3:c.194_201del MANE Select NP_000268.1:p.Ile65LysfsTer9
NM_001354304.2:c.194_201del NP_001341233.1:p.Ile65LysfsTer9
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