Canonical Allele Identifier: CA2059451046
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846695_102846699delinsTGTAG , CM000674.2:g.102846695_102846699delinsTGTAG GRCh38
NC_000012.11:g.103240473_103240477delinsTGTAG , CM000674.1:g.103240473_103240477delinsTGTAG GRCh37
NC_000012.10:g.101764603_101764607delinsTGTAG NCBI36
NG_008690.1:g.75904_75908delinsCTACA
NG_008690.2:g.116712_116716delinsCTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+196_969+200delinsCTACA MANE Select ENSP00000448059.1:n.969+196_969+200delinsCTACA
ENST00000307000.7:c.954+196_954+200delinsCTACA ENSP00000303500.2:n.954+196_954+200delinsCTACA
ENST00000549247.6:n.728+196_728+200delinsCTACA
ENST00000551114.2:n.631+196_631+200delinsCTACA
ENST00000553106.5:c.969+196_969+200delinsCTACA ENSP00000448059.1:n.969+196_969+200delinsCTACA
ENST00000635477.1:c.74-2268_74-2264delinsCTACA
ENST00000635528.1:n.484+196_484+200delinsCTACA
NM_000277.1:c.969+196_969+200delinsCTACA NP_000268.1:n.969+196_969+200delinsCTACA
XM_011538422.1:c.913-2268_913-2264delinsCTACA XP_011536724.1:n.913-2268_913-2264delinsCTACA
NM_000277.2:c.969+196_969+200delinsCTACA NP_000268.1:n.969+196_969+200delinsCTACA
NM_001354304.1:c.969+196_969+200delinsCTACA NP_001341233.1:n.969+196_969+200delinsCTACA
NM_000277.3:c.969+196_969+200delinsCTACA MANE Select NP_000268.1:n.969+196_969+200delinsCTACA
NM_001354304.2:c.969+196_969+200delinsCTACA NP_001341233.1:n.969+196_969+200delinsCTACA