Canonical Allele Identifier: CA16020792
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866652del , CM000674.2:g.102866652del GRCh38
NC_000012.11:g.103260430del , CM000674.1:g.103260430del GRCh37
NC_000012.10:g.101784560del NCBI36
NG_008690.1:g.55951del
NG_008690.2:g.96759del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.453del MANE Select ENSP00000448059.1:p.Pro152LeufsTer?
ENST00000307000.7:c.438del ENSP00000303500.2:p.Pro147LeufsTer?
ENST00000549111.5:n.549del
ENST00000551988.5:n.530+10810del
ENST00000553106.5:c.453del ENSP00000448059.1:p.Pro152LeufsTer?
NM_000277.1:c.453del NP_000268.1:p.Pro152LeufsTer?
XM_011538422.1:c.453del XP_011536724.1:p.Pro152LeufsTer?
NM_000277.2:c.453del NP_000268.1:p.Pro152LeufsTer?
NM_001354304.1:c.453del NP_001341233.1:p.Pro152LeufsTer?
XM_017019370.2:c.453del XP_016874859.1:p.Pro152LeufsTer?
NM_000277.3:c.453del MANE Select NP_000268.1:p.Pro152LeufsTer?
NM_001354304.2:c.453del NP_001341233.1:p.Pro152LeufsTer?
Search 100 bp 5'
Search 100 bp 3'