Canonical Allele Identifier: CA16020830
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855190del , CM000674.2:g.102855190del GRCh38
NC_000012.11:g.103248968del , CM000674.1:g.103248968del GRCh37
NC_000012.10:g.101773098del NCBI36
NG_008690.1:g.67414del
NG_008690.2:g.108222del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.653del MANE Select ENSP00000448059.1:p.Gly218AlafsTer?
ENST00000307000.7:c.638del ENSP00000303500.2:p.Gly213AlafsTer?
ENST00000549111.5:n.749del
ENST00000553106.5:c.653del ENSP00000448059.1:p.Gly218AlafsTer?
NM_000277.1:c.653del NP_000268.1:p.Gly218AlafsTer?
XM_011538422.1:c.653del XP_011536724.1:p.Gly218AlafsTer?
NM_000277.2:c.653del NP_000268.1:p.Gly218AlafsTer?
NM_001354304.1:c.653del NP_001341233.1:p.Gly218AlafsTer?
XM_017019370.2:c.653del XP_016874859.1:p.Gly218AlafsTer?
NM_000277.3:c.653del MANE Select NP_000268.1:p.Gly218AlafsTer?
NM_001354304.2:c.653del NP_001341233.1:p.Gly218AlafsTer?
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