Canonical Allele Identifier: CA2580085690
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1726584
ClinVar RCV Id: RCV002310268
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877465del , CM000674.2:g.102877465del GRCh38
NC_000012.11:g.103271243del , CM000674.1:g.103271243del GRCh37
NC_000012.10:g.101795373del NCBI36
NG_008690.1:g.45140del
NG_008690.2:g.85948del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.440del MANE Select ENSP00000448059.1:p.Pro147LeufsTer?
ENST00000307000.7:c.425del ENSP00000303500.2:p.Pro142LeufsTer?
ENST00000549111.5:n.536del
ENST00000550978.6:c.424del
ENST00000551988.5:n.529del
ENST00000553106.5:c.440del ENSP00000448059.1:p.Pro147LeufsTer?
NM_000277.1:c.440del NP_000268.1:p.Pro147LeufsTer?
XM_011538422.1:c.440del XP_011536724.1:p.Pro147LeufsTer?
NM_000277.2:c.440del NP_000268.1:p.Pro147LeufsTer?
NM_001354304.1:c.440del NP_001341233.1:p.Pro147LeufsTer?
XM_017019370.2:c.440del XP_016874859.1:p.Pro147LeufsTer?
NM_000277.3:c.440del MANE Select NP_000268.1:p.Pro147LeufsTer?
NM_001354304.2:c.440del NP_001341233.1:p.Pro147LeufsTer?
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