Canonical Allele Identifier: CA2580085685
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1724054
ClinVar RCV Id: RCV002306609
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866638del , CM000674.2:g.102866638del GRCh38
NC_000012.11:g.103260416del , CM000674.1:g.103260416del GRCh37
NC_000012.10:g.101784546del NCBI36
NG_008690.1:g.55965del
NG_008690.2:g.96773del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.467del MANE Select ENSP00000448059.1:p.Ala156GlufsTer?
ENST00000307000.7:c.452del ENSP00000303500.2:p.Ala151GlufsTer?
ENST00000549111.5:n.563del
ENST00000551988.5:n.530+10824del
ENST00000553106.5:c.467del ENSP00000448059.1:p.Ala156GlufsTer?
NM_000277.1:c.467del NP_000268.1:p.Ala156GlufsTer?
XM_011538422.1:c.467del XP_011536724.1:p.Ala156GlufsTer?
NM_000277.2:c.467del NP_000268.1:p.Ala156GlufsTer?
NM_001354304.1:c.467del NP_001341233.1:p.Ala156GlufsTer?
XM_017019370.2:c.467del XP_016874859.1:p.Ala156GlufsTer?
NM_000277.3:c.467del MANE Select NP_000268.1:p.Ala156GlufsTer?
NM_001354304.2:c.467del NP_001341233.1:p.Ala156GlufsTer?
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