Canonical Allele Identifier: CA229364
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 188933
dbSNP Id: rs199475565

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912844_102912846del , CM000674.2:g.102912844_102912846del GRCh38
NC_000012.11:g.103306622_103306624del , CM000674.1:g.103306622_103306624del GRCh37
NC_000012.10:g.101830752_101830754del NCBI36
NG_008690.1:g.9760_9762del
NG_008690.2:g.50568_50570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.116_118del MANE Select ENSP00000448059.1:p.Phe39del
ENST00000307000.7:c.101_103del ENSP00000303500.2:p.Phe34del
ENST00000546844.1:c.116_118del ENSP00000446658.1:p.Phe39del
ENST00000548677.2:n.203_205del
ENST00000548928.1:n.38_40del
ENST00000549111.5:n.212_214del
ENST00000550978.6:c.100_102del
ENST00000551337.5:c.116_118del ENSP00000447620.1:p.Phe39del
ENST00000551988.5:n.205_207del
ENST00000553106.5:c.116_118del ENSP00000448059.1:p.Phe39del
ENST00000635500.1:n.84_86del
NM_000277.1:c.116_118del NP_000268.1:p.Phe39del
XM_011538422.1:c.116_118del XP_011536724.1:p.Phe39del
NM_000277.2:c.116_118del NP_000268.1:p.Phe39del
NM_001354304.1:c.116_118del NP_001341233.1:p.Phe39del
XM_017019370.2:c.116_118del XP_016874859.1:p.Phe39del
NM_000277.3:c.116_118del MANE Select NP_000268.1:p.Phe39del
NM_001354304.2:c.116_118del NP_001341233.1:p.Phe39del