Canonical Allele Identifier: CA2573147928
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1380684
ClinVar RCV Id: RCV001895010
dbSNP Id: rs2136728245
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912832del , CM000674.2:g.102912832del GRCh38
NC_000012.11:g.103306610del , CM000674.1:g.103306610del GRCh37
NC_000012.10:g.101830740del NCBI36
NG_008690.1:g.9771del
NG_008690.2:g.50579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.127del MANE Select ENSP00000448059.1:p.Glu43LysfsTer18
ENST00000307000.7:c.112del ENSP00000303500.2:p.Glu38LysfsTer18
ENST00000546844.1:c.127del ENSP00000446658.1:p.Glu43LysfsTer18
ENST00000548677.2:n.214del
ENST00000548928.1:n.49del
ENST00000549111.5:n.223del
ENST00000550978.6:c.111del
ENST00000551337.5:c.127del ENSP00000447620.1:p.Glu43LysfsTer18
ENST00000551988.5:n.216del
ENST00000553106.5:c.127del ENSP00000448059.1:p.Glu43LysfsTer18
ENST00000635500.1:n.95del
NM_000277.1:c.127del NP_000268.1:p.Glu43LysfsTer18
XM_011538422.1:c.127del XP_011536724.1:p.Glu43LysfsTer18
NM_000277.2:c.127del NP_000268.1:p.Glu43LysfsTer18
NM_001354304.1:c.127del NP_001341233.1:p.Glu43LysfsTer18
XM_017019370.2:c.127del XP_016874859.1:p.Glu43LysfsTer18
NM_000277.3:c.127del MANE Select NP_000268.1:p.Glu43LysfsTer18
NM_001354304.2:c.127del NP_001341233.1:p.Glu43LysfsTer18
Search 100 bp 5'
Search 100 bp 3'