Canonical Allele Identifier: CA16020741
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 971992
ClinVar RCV Id: RCV001559695 RCV001247911
dbSNP Id: rs1877437047
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894897_102894900delinsTGGG , CM000674.2:g.102894897_102894900delinsTGGG GRCh38
NC_000012.11:g.103288675_103288678delinsTGGG , CM000674.1:g.103288675_103288678delinsTGGG GRCh37
NC_000012.10:g.101812805_101812808delinsTGGG NCBI36
NG_008690.1:g.27703_27706delinsCCCA
NG_008690.2:g.68511_68514delinsCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.187_190delinsCCCA MANE Select ENSP00000448059.1:p.Thr63_His64delinsProAsn
ENST00000307000.7:c.172_175delinsCCCA ENSP00000303500.2:p.Thr58_His59delinsProAsn
ENST00000546844.1:c.187_190delinsCCCA ENSP00000446658.1:p.Thr63_His64delinsProAsn
ENST00000548677.2:n.274_277delinsCCCA
ENST00000548928.1:n.109_112delinsCCCA
ENST00000549111.5:n.283_286delinsCCCA
ENST00000550978.6:c.171_174delinsCCCA
ENST00000551337.5:c.187_190delinsCCCA ENSP00000447620.1:p.Thr63_His64delinsProAsn
ENST00000551988.5:n.276_279delinsCCCA
ENST00000553106.5:c.187_190delinsCCCA ENSP00000448059.1:p.Thr63_His64delinsProAsn
ENST00000635500.1:n.155_158delinsCCCA
NM_000277.1:c.187_190delinsCCCA NP_000268.1:p.Thr63_His64delinsProAsn
XM_011538422.1:c.187_190delinsCCCA XP_011536724.1:p.Thr63_His64delinsProAsn
NM_000277.2:c.187_190delinsCCCA NP_000268.1:p.Thr63_His64delinsProAsn
NM_001354304.1:c.187_190delinsCCCA NP_001341233.1:p.Thr63_His64delinsProAsn
XM_017019370.2:c.187_190delinsCCCA XP_016874859.1:p.Thr63_His64delinsProAsn
NM_000277.3:c.187_190delinsCCCA MANE Select NP_000268.1:p.Thr63_His64delinsProAsn
NM_001354304.2:c.187_190delinsCCCA NP_001341233.1:p.Thr63_His64delinsProAsn
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