Canonical Allele Identifier: CA645584085
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM2149208
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866602_102866603del , CM000674.2:g.102866602_102866603del GRCh38
NC_000012.11:g.103260380_103260381del , CM000674.1:g.103260380_103260381del GRCh37
NC_000012.10:g.101784510_101784511del NCBI36
NG_008690.1:g.56000_56001del
NG_008690.2:g.96808_96809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.502_503del MANE Select ENSP00000448059.1:p.Tyr168ProfsTer?
ENST00000307000.7:c.487_488del ENSP00000303500.2:p.Tyr163ProfsTer?
ENST00000549111.5:n.598_599del
ENST00000551988.5:n.530+10859_530+10860del
ENST00000553106.5:c.502_503del ENSP00000448059.1:p.Tyr168ProfsTer?
NM_000277.1:c.502_503del NP_000268.1:p.Tyr168ProfsTer?
XM_011538422.1:c.502_503del XP_011536724.1:p.Tyr168ProfsTer?
NM_000277.2:c.502_503del NP_000268.1:p.Tyr168ProfsTer?
NM_001354304.1:c.502_503del NP_001341233.1:p.Tyr168ProfsTer?
XM_017019370.2:c.502_503del XP_016874859.1:p.Tyr168ProfsTer?
NM_000277.3:c.502_503del MANE Select NP_000268.1:p.Tyr168ProfsTer?
NM_001354304.2:c.502_503del NP_001341233.1:p.Tyr168ProfsTer?
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