Canonical Allele Identifier: CA2059446097
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843531_102843532delinsTG , CM000674.2:g.102843531_102843532delinsTG GRCh38
NC_000012.11:g.103237309_103237310delinsTG , CM000674.1:g.103237309_103237310delinsTG GRCh37
NC_000012.10:g.101761439_101761440delinsTG NCBI36
NG_008690.1:g.79071_79072delinsCA
NG_008690.2:g.119879_119880delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+114_1199+115delinsCA MANE Select ENSP00000448059.1:n.1199+114_1199+115delinsCA
ENST00000307000.7:c.1184+114_1184+115delinsCA ENSP00000303500.2:n.1184+114_1184+115delinsCA
ENST00000549247.6:n.958+114_958+115delinsCA
ENST00000551114.2:n.861+114_861+115delinsCA
ENST00000553106.5:c.1199+114_1199+115delinsCA ENSP00000448059.1:n.1199+114_1199+115delinsCA
ENST00000635477.1:c.303+114_303+115delinsCA
ENST00000635528.1:n.714+114_714+115delinsCA
NM_000277.1:c.1199+114_1199+115delinsCA NP_000268.1:n.1199+114_1199+115delinsCA
XM_011538422.1:c.1142+114_1142+115delinsCA XP_011536724.1:n.1142+114_1142+115delinsCA
NM_000277.2:c.1199+114_1199+115delinsCA NP_000268.1:n.1199+114_1199+115delinsCA
NM_001354304.1:c.1199+114_1199+115delinsCA NP_001341233.1:n.1199+114_1199+115delinsCA
NM_000277.3:c.1199+114_1199+115delinsCA MANE Select NP_000268.1:n.1199+114_1199+115delinsCA
NM_001354304.2:c.1199+114_1199+115delinsCA NP_001341233.1:n.1199+114_1199+115delinsCA
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