Canonical Allele Identifier: CA2695217172
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894882_102894889del , CM000674.2:g.102894882_102894889del GRCh38
NC_000012.11:g.103288660_103288667del , CM000674.1:g.103288660_103288667del GRCh37
NC_000012.10:g.101812790_101812797del NCBI36
NG_008690.1:g.27714_27721del
NG_008690.2:g.68522_68529del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.198_205del MANE Select ENSP00000448059.1:p.Glu66AspfsTer8
ENST00000307000.7:c.183_190del ENSP00000303500.2:p.Glu61AspfsTer8
ENST00000546844.1:c.198_205del ENSP00000446658.1:p.Glu66AspfsTer8
ENST00000548677.2:n.285_292del
ENST00000548928.1:n.120_127del
ENST00000549111.5:n.294_301del
ENST00000550978.6:c.182_189del
ENST00000551337.5:c.198_205del ENSP00000447620.1:p.Glu66AspfsTer8
ENST00000551988.5:n.287_294del
ENST00000553106.5:c.198_205del ENSP00000448059.1:p.Glu66AspfsTer8
ENST00000635500.1:n.166_173del
NM_000277.1:c.198_205del NP_000268.1:p.Glu66AspfsTer8
XM_011538422.1:c.198_205del XP_011536724.1:p.Glu66AspfsTer8
NM_000277.2:c.198_205del NP_000268.1:p.Glu66AspfsTer8
NM_001354304.1:c.198_205del NP_001341233.1:p.Glu66AspfsTer8
XM_017019370.2:c.198_205del XP_016874859.1:p.Glu66AspfsTer8
NM_000277.3:c.198_205del MANE Select NP_000268.1:p.Glu66AspfsTer8
NM_001354304.2:c.198_205del NP_001341233.1:p.Glu66AspfsTer8
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