Canonical Allele Identifier: CA267688
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120296
ClinVar RCV Id: RCV000106377
dbSNP Id: rs281865456

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846950del , CM000674.2:g.102846950del GRCh38
NC_000012.11:g.103240728del , CM000674.1:g.103240728del GRCh37
NC_000012.10:g.101764858del NCBI36
NG_008690.1:g.75655del
NG_008690.2:g.116463del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.916del MANE Select ENSP00000448059.1:p.Ile306LeufsTer?
ENST00000307000.7:c.901del ENSP00000303500.2:p.Ile301LeufsTer?
ENST00000549247.6:n.675del
ENST00000551114.2:n.578del
ENST00000553106.5:c.916del ENSP00000448059.1:p.Ile306LeufsTer?
ENST00000635477.1:c.74-2517del
ENST00000635528.1:n.431del
NM_000277.1:c.916del NP_000268.1:p.Ile306LeufsTer?
XM_011538422.1:c.913-2517del XP_011536724.1:n.913-2517del
NM_000277.2:c.916del NP_000268.1:p.Ile306LeufsTer?
NM_001354304.1:c.916del NP_001341233.1:p.Ile306LeufsTer?
NM_000277.3:c.916del MANE Select NP_000268.1:p.Ile306LeufsTer?
NM_001354304.2:c.916del NP_001341233.1:p.Ile306LeufsTer?