Canonical Allele Identifier: CA2059456713
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866051_102866052delinsAG , CM000674.2:g.102866051_102866052delinsAG GRCh38
NC_000012.11:g.103259829_103259830delinsAG , CM000674.1:g.103259829_103259830delinsAG GRCh37
NC_000012.10:g.101783959_101783960delinsAG NCBI36
NG_008690.1:g.56551_56552delinsCT
NG_008690.2:g.97359_97360delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+544_509+545delinsCT MANE Select ENSP00000448059.1:n.509+544_509+545delinsCT
ENST00000307000.7:c.494+544_494+545delinsCT ENSP00000303500.2:n.494+544_494+545delinsCT
ENST00000549111.5:n.605+544_605+545delinsCT
ENST00000551988.5:n.531-10720_531-10719delinsCT
ENST00000553106.5:c.509+544_509+545delinsCT ENSP00000448059.1:n.509+544_509+545delinsCT
NM_000277.1:c.509+544_509+545delinsCT NP_000268.1:n.509+544_509+545delinsCT
XM_011538422.1:c.509+544_509+545delinsCT XP_011536724.1:n.509+544_509+545delinsCT
NM_000277.2:c.509+544_509+545delinsCT NP_000268.1:n.509+544_509+545delinsCT
NM_001354304.1:c.509+544_509+545delinsCT NP_001341233.1:n.509+544_509+545delinsCT
XM_017019370.2:c.509+544_509+545delinsCT XP_016874859.1:n.509+544_509+545delinsCT
NM_000277.3:c.509+544_509+545delinsCT MANE Select NP_000268.1:n.509+544_509+545delinsCT
NM_001354304.2:c.509+544_509+545delinsCT NP_001341233.1:n.509+544_509+545delinsCT
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