Canonical Allele Identifier: CA2059456660
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865918_102865923delinsTAACTC , CM000674.2:g.102865918_102865923delinsTAACTC GRCh38
NC_000012.11:g.103259696_103259701delinsTAACTC , CM000674.1:g.103259696_103259701delinsTAACTC GRCh37
NC_000012.10:g.101783826_101783831delinsTAACTC NCBI36
NG_008690.1:g.56680_56685delinsGAGTTA
NG_008690.2:g.97488_97493delinsGAGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+673_509+678delinsGAGTTA MANE Select ENSP00000448059.1:n.509+673_509+678delinsGAGTTA
ENST00000307000.7:c.494+673_494+678delinsGAGTTA ENSP00000303500.2:n.494+673_494+678delinsGAGTTA
ENST00000549111.5:n.605+673_605+678delinsGAGTTA
ENST00000551988.5:n.531-10591_531-10586delinsGAGTTA
ENST00000553106.5:c.509+673_509+678delinsGAGTTA ENSP00000448059.1:n.509+673_509+678delinsGAGTTA
NM_000277.1:c.509+673_509+678delinsGAGTTA NP_000268.1:n.509+673_509+678delinsGAGTTA
XM_011538422.1:c.509+673_509+678delinsGAGTTA XP_011536724.1:n.509+673_509+678delinsGAGTTA
NM_000277.2:c.509+673_509+678delinsGAGTTA NP_000268.1:n.509+673_509+678delinsGAGTTA
NM_001354304.1:c.509+673_509+678delinsGAGTTA NP_001341233.1:n.509+673_509+678delinsGAGTTA
XM_017019370.2:c.509+673_509+678delinsGAGTTA XP_016874859.1:n.509+673_509+678delinsGAGTTA
NM_000277.3:c.509+673_509+678delinsGAGTTA MANE Select NP_000268.1:n.509+673_509+678delinsGAGTTA
NM_001354304.2:c.509+673_509+678delinsGAGTTA NP_001341233.1:n.509+673_509+678delinsGAGTTA
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