Canonical Allele Identifier: CA2695217160
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855207del , CM000674.2:g.102855207del GRCh38
NC_000012.11:g.103248985del , CM000674.1:g.103248985del GRCh37
NC_000012.10:g.101773115del NCBI36
NG_008690.1:g.67397del
NG_008690.2:g.108205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.636del MANE Select ENSP00000448059.1:p.Glu214LysfsTer?
ENST00000307000.7:c.621del ENSP00000303500.2:p.Glu209LysfsTer?
ENST00000549111.5:n.732del
ENST00000553106.5:c.636del ENSP00000448059.1:p.Glu214LysfsTer?
NM_000277.1:c.636del NP_000268.1:p.Glu214LysfsTer?
XM_011538422.1:c.636del XP_011536724.1:p.Glu214LysfsTer?
NM_000277.2:c.636del NP_000268.1:p.Glu214LysfsTer?
NM_001354304.1:c.636del NP_001341233.1:p.Glu214LysfsTer?
XM_017019370.2:c.636del XP_016874859.1:p.Glu214LysfsTer?
NM_000277.3:c.636del MANE Select NP_000268.1:p.Glu214LysfsTer?
NM_001354304.2:c.636del NP_001341233.1:p.Glu214LysfsTer?
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