Canonical Allele Identifier: CA2620507586
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877535-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877537del , CM000674.2:g.102877537del GRCh38
NC_000012.11:g.103271315del , CM000674.1:g.103271315del GRCh37
NC_000012.10:g.101795445del NCBI36
NG_008690.1:g.45067del
NG_008690.2:g.85875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.367del MANE Select ENSP00000448059.1:p.Arg123GlufsTer?
ENST00000307000.7:c.352del ENSP00000303500.2:p.Arg118GlufsTer?
ENST00000549111.5:n.463del
ENST00000550978.6:c.351del
ENST00000551337.5:c.367del ENSP00000447620.1:p.Arg123GlufsTer?
ENST00000551988.5:n.456del
ENST00000553106.5:c.367del ENSP00000448059.1:p.Arg123GlufsTer?
NM_000277.1:c.367del NP_000268.1:p.Arg123GlufsTer?
XM_011538422.1:c.367del XP_011536724.1:p.Arg123GlufsTer?
NM_000277.2:c.367del NP_000268.1:p.Arg123GlufsTer?
NM_001354304.1:c.367del NP_001341233.1:p.Arg123GlufsTer?
XM_017019370.2:c.367del XP_016874859.1:p.Arg123GlufsTer?
NM_000277.3:c.367del MANE Select NP_000268.1:p.Arg123GlufsTer?
NM_001354304.2:c.367del NP_001341233.1:p.Arg123GlufsTer?
Search 100 bp 5'
Search 100 bp 3'