Canonical Allele Identifier: CA2059456778
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866178_102866182delinsGATTC , CM000674.2:g.102866178_102866182delinsGATTC GRCh38
NC_000012.11:g.103259956_103259960delinsGATTC , CM000674.1:g.103259956_103259960delinsGATTC GRCh37
NC_000012.10:g.101784086_101784090delinsGATTC NCBI36
NG_008690.1:g.56421_56425delinsGAATC
NG_008690.2:g.97229_97233delinsGAATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+414_509+418delinsGAATC MANE Select ENSP00000448059.1:n.509+414_509+418delinsGAATC
ENST00000307000.7:c.494+414_494+418delinsGAATC ENSP00000303500.2:n.494+414_494+418delinsGAATC
ENST00000549111.5:n.605+414_605+418delinsGAATC
ENST00000551988.5:n.531-10850_531-10846delinsGAATC
ENST00000553106.5:c.509+414_509+418delinsGAATC ENSP00000448059.1:n.509+414_509+418delinsGAATC
NM_000277.1:c.509+414_509+418delinsGAATC NP_000268.1:n.509+414_509+418delinsGAATC
XM_011538422.1:c.509+414_509+418delinsGAATC XP_011536724.1:n.509+414_509+418delinsGAATC
NM_000277.2:c.509+414_509+418delinsGAATC NP_000268.1:n.509+414_509+418delinsGAATC
NM_001354304.1:c.509+414_509+418delinsGAATC NP_001341233.1:n.509+414_509+418delinsGAATC
XM_017019370.2:c.509+414_509+418delinsGAATC XP_016874859.1:n.509+414_509+418delinsGAATC
NM_000277.3:c.509+414_509+418delinsGAATC MANE Select NP_000268.1:n.509+414_509+418delinsGAATC
NM_001354304.2:c.509+414_509+418delinsGAATC NP_001341233.1:n.509+414_509+418delinsGAATC