Canonical Allele Identifier: CA2059448133
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854364_102854365delinsAG , CM000674.2:g.102854364_102854365delinsAG GRCh38
NC_000012.11:g.103248142_103248143delinsAG , CM000674.1:g.103248142_103248143delinsAG GRCh37
NC_000012.10:g.101772272_101772273delinsAG NCBI36
NG_008690.1:g.68238_68239delinsCT
NG_008690.2:g.109046_109047delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+771_706+772delinsCT MANE Select ENSP00000448059.1:n.706+771_706+772delinsCT
ENST00000307000.7:c.691+771_691+772delinsCT ENSP00000303500.2:n.691+771_691+772delinsCT
ENST00000553106.5:c.706+771_706+772delinsCT ENSP00000448059.1:n.706+771_706+772delinsCT
NM_000277.1:c.706+771_706+772delinsCT NP_000268.1:n.706+771_706+772delinsCT
XM_011538422.1:c.706+771_706+772delinsCT XP_011536724.1:n.706+771_706+772delinsCT
NM_000277.2:c.706+771_706+772delinsCT NP_000268.1:n.706+771_706+772delinsCT
NM_001354304.1:c.706+771_706+772delinsCT NP_001341233.1:n.706+771_706+772delinsCT
XM_017019370.2:c.*420_*421delinsCT XP_016874859.1:n.*420_*421delinsCT
NM_000277.3:c.706+771_706+772delinsCT MANE Select NP_000268.1:n.706+771_706+772delinsCT
NM_001354304.2:c.706+771_706+772delinsCT NP_001341233.1:n.706+771_706+772delinsCT
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