Canonical Allele Identifier: CA2573147904
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1344578
ClinVar RCV Id: RCV002254727
dbSNP Id: rs2136701938
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894864_102894872del , CM000674.2:g.102894864_102894872del GRCh38
NC_000012.11:g.103288642_103288650del , CM000674.1:g.103288642_103288650del GRCh37
NC_000012.10:g.101812772_101812780del NCBI36
NG_008690.1:g.27731_27739del
NG_008690.2:g.68539_68547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.215_223del MANE Select ENSP00000448059.1:p.Leu72_Asp75delinsTyr
ENST00000307000.7:c.200_208del ENSP00000303500.2:p.Leu67_Asp70delinsTyr
ENST00000546844.1:c.215_223del ENSP00000446658.1:p.Leu72_Asp75delinsTyr
ENST00000548677.2:n.302_310del
ENST00000548928.1:n.137_145del
ENST00000549111.5:n.311_319del
ENST00000550978.6:c.199_207del
ENST00000551337.5:c.215_223del ENSP00000447620.1:p.Leu72_Asp75delinsTyr
ENST00000551988.5:n.304_312del
ENST00000553106.5:c.215_223del ENSP00000448059.1:p.Leu72_Asp75delinsTyr
NM_000277.1:c.215_223del NP_000268.1:p.Leu72_Asp75delinsTyr
XM_011538422.1:c.215_223del XP_011536724.1:p.Leu72_Asp75delinsTyr
NM_000277.2:c.215_223del NP_000268.1:p.Leu72_Asp75delinsTyr
NM_001354304.1:c.215_223del NP_001341233.1:p.Leu72_Asp75delinsTyr
XM_017019370.2:c.215_223del XP_016874859.1:p.Leu72_Asp75delinsTyr
NM_000277.3:c.215_223del MANE Select NP_000268.1:p.Leu72_Asp75delinsTyr
NM_001354304.2:c.215_223del NP_001341233.1:p.Leu72_Asp75delinsTyr
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