Canonical Allele Identifier: CA16020987
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840446del , CM000674.2:g.102840446del GRCh38
NC_000012.11:g.103234224del , CM000674.1:g.103234224del GRCh37
NC_000012.10:g.101758354del NCBI36
NG_008690.1:g.82157del
NG_008690.2:g.122965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1269del MANE Select ENSP00000448059.1:p.Leu424TrpfsTer28
ENST00000307000.7:c.1254del ENSP00000303500.2:p.Leu419TrpfsTer28
ENST00000551114.2:n.931del
ENST00000553106.5:c.1269del ENSP00000448059.1:p.Leu424TrpfsTer28
ENST00000635477.1:c.373del
ENST00000635528.1:n.784del
NM_000277.1:c.1269del NP_000268.1:p.Leu424TrpfsTer28
XM_011538422.1:c.1212del XP_011536724.1:p.Leu405TrpfsTer28
NM_000277.2:c.1269del NP_000268.1:p.Leu424TrpfsTer28
NM_001354304.1:c.1269del NP_001341233.1:p.Leu424TrpfsTer28
NM_000277.3:c.1269del MANE Select NP_000268.1:p.Leu424TrpfsTer28
NM_001354304.2:c.1269del NP_001341233.1:p.Leu424TrpfsTer28
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