Canonical Allele Identifier: CA2580085684
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1726935
ClinVar RCV Id: RCV002308410
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877537_102877538delinsA , CM000674.2:g.102877537_102877538delinsA GRCh38
NC_000012.11:g.103271315_103271316delinsA , CM000674.1:g.103271315_103271316delinsA GRCh37
NC_000012.10:g.101795445_101795446delinsA NCBI36
NG_008690.1:g.45065_45066delinsT
NG_008690.2:g.85873_85874delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.365_366delinsT MANE Select ENSP00000448059.1:p.Pro122LeufsTer?
ENST00000307000.7:c.350_351delinsT ENSP00000303500.2:p.Pro117LeufsTer?
ENST00000549111.5:n.461_462delinsT
ENST00000550978.6:c.349_350delinsT
ENST00000551337.5:c.365_366delinsT ENSP00000447620.1:p.Pro122LeufsTer?
ENST00000551988.5:n.454_455delinsT
ENST00000553106.5:c.365_366delinsT ENSP00000448059.1:p.Pro122LeufsTer?
NM_000277.1:c.365_366delinsT NP_000268.1:p.Pro122LeufsTer?
XM_011538422.1:c.365_366delinsT XP_011536724.1:p.Pro122LeufsTer?
NM_000277.2:c.365_366delinsT NP_000268.1:p.Pro122LeufsTer?
NM_001354304.1:c.365_366delinsT NP_001341233.1:p.Pro122LeufsTer?
XM_017019370.2:c.365_366delinsT XP_016874859.1:p.Pro122LeufsTer?
NM_000277.3:c.365_366delinsT MANE Select NP_000268.1:p.Pro122LeufsTer?
NM_001354304.2:c.365_366delinsT NP_001341233.1:p.Pro122LeufsTer?
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