Canonical Allele Identifier: CA2497030226
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2573215
ClinVar RCV Id: RCV003316904
ERepo: CA2497030226/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894804_102894807del , CM000674.2:g.102894804_102894807del GRCh38
NC_000012.11:g.103288582_103288585del , CM000674.1:g.103288582_103288585del GRCh37
NC_000012.10:g.101812712_101812715del NCBI36
NG_008690.1:g.27796_27799del
NG_008690.2:g.68604_68607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.280_283del MANE Select ENSP00000448059.1:p.Ile94SerfsTer4
ENST00000307000.7:c.265_268del ENSP00000303500.2:p.Ile89SerfsTer4
ENST00000546844.1:c.280_283del ENSP00000446658.1:p.Ile94SerfsTer4
ENST00000548677.2:n.367_370del
ENST00000548928.1:n.202_205del
ENST00000549111.5:n.376_379del
ENST00000550978.6:c.264_267del
ENST00000551337.5:c.280_283del ENSP00000447620.1:p.Ile94SerfsTer4
ENST00000551988.5:n.369_372del
ENST00000553106.5:c.280_283del ENSP00000448059.1:p.Ile94SerfsTer4
NM_000277.1:c.280_283del NP_000268.1:p.Ile94SerfsTer4
XM_011538422.1:c.280_283del XP_011536724.1:p.Ile94SerfsTer4
NM_000277.2:c.280_283del NP_000268.1:p.Ile94SerfsTer4
NM_001354304.1:c.280_283del NP_001341233.1:p.Ile94SerfsTer4
XM_017019370.2:c.280_283del XP_016874859.1:p.Ile94SerfsTer4
NM_000277.3:c.280_283del MANE Select NP_000268.1:p.Ile94SerfsTer4
NM_001354304.2:c.280_283del NP_001341233.1:p.Ile94SerfsTer4
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